Genomes and Genes
Summary: Aberrant chromosomes with no ends, i.e., circular.
Publications201 found, 100 shown here
- Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotypeK D Lichtenbelt
Department of Biomedical Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands
Am J Med Genet A 132:93-100. 2005..23. We speculate that the effects on speech acquisition are mediated by the supernumerary copies of the STX1A and LIMK1 genes, which are both located in this region and known to suppress neurite growth when overexpressed in vitro...
- Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated casesH Z Zhang
Department of Genetics, Yale School of Medicine, New Haven, CT 06520 8005, USA
Cytogenet Genome Res 136:180-7. 2012..A cytogenomic approach is proposed for characterizing the genomic structure and mitotic instability of ring chromosome abnormalities...
- Genetics of dermatofibrosarcoma protuberans family of tumors: from ring chromosomes to tyrosine kinase inhibitor treatmentNicolas Sirvent
Service de Pediatrie, Centre Hospitalier Universitaire de Nice, Nice, France
Genes Chromosomes Cancer 37:1-19. 2003..At the cytogenetic level, DP cells are characterized by either supernumerary ring chromosomes, which have been shown by using fluorescence in situ hybridization techniques to be derived from chromosome ..
- Coamplification of 12p11 and 12q13 approximately q22 in multiple ring chromosomes in a spindle cell sarcoma resolved by novel multicolor fluorescence in situ hybridization analysisValia S Lestou
Department of Pathology and Laboratory Medicine, British Columbia Cancer Agency, R, British Columbia, Vancouve, Canada
Cancer Genet Cytogenet 139:44-7. 2002..analysis demonstrated a complex karyotype with a der(6), a small marker and five, different in size, ring chromosomes. Fluorescence in situ hybridization (FISH), multiplex FISH, and multicolor banding analysis was used to ..
- Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literatureJoris Andrieux
Laboratoire de Génétique Médicale Barre Nord Hôpital Jeanne de Flandre, CHRU Lille, 59037 Lille Cedex, France
Eur J Med Genet 48:199-206. 2005..Magnetic resonance imaging (MRI) confirmed this, but showed a partial corpus callosum agenesis, leading to amniocentesis and revealing the chromosomal abnormality. Imaging features were correlated with autopsy findings...
- Telomere-independent homologue pairing and checkpoint escape of accessory ring chromosomes in male mouse meiosisThierry Voet
Human Genome Laboratory, Department of Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Belgium
J Cell Biol 162:795-807. 2003..Our findings indicate a telomere-independent mechanism for pairing of mammalian MCs, illuminate escape routes to meiotic checkpoints, and give clues for genetic engineering of germ line-permissive chromosomal vectors...
- FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6Hui Z Zhang
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
Am J Med Genet A 124:280-7. 2004..We recommend ophthalmology, audiology, cardiology, and central nervous system examinations be part of the routine evaluation for children with a ring chromosome 6...
- Telomeres act autonomously in maize to organize the meiotic bouquet from a semipolarized chromosome orientationPeter M Carlton
Department of Molecular and Cell Biology, University of California at Berkeley, Berkeley, CA 94720, USA
J Cell Biol 157:231-42. 2002..By examining telocentric and ring chromosomes, we have tested the cis-acting requirements for participation in the bouquet...
- High-resolution array CGH analysis of salivary gland tumors reveals fusion and amplification of the FGFR1 and PLAG1 genes in ring chromosomesF Persson
Lundberg Laboratory for Cancer Research, Department of Pathology, Sahlgrenska University Hospital, Goteborg University, Goteborg, Sweden
Oncogene 27:3072-80. 2008We have previously identified a subgroup of pleomorphic salivary gland adenomas with ring chromosomes of uncertain derivation...
- Ring chromosome 6 in three fetuses: case reports, literature review, and implications for prenatal diagnosisMaik Urban
Institut fur Medizinische Genetik, Universitatsklinikum Charite, Humboldt Universität zu, Berlin, Germany
Am J Med Genet 108:97-104. 2002..This makes prognostic counseling of parents difficult and unsatisfactory. Serial targeted ultrasound examinations, especially of the brain, are decisive factors in elucidating the prognosis...
- An epileptic case with mosaic ring chromosome 6 and 6q terminal deletionNurten Kara
Ondokuz Mayis University, Faculty of Medicine, Department of Medical Biology and Genetics, 55139 Samsun, Turkey
Epilepsy Res 80:219-23. 2008b>Ring chromosomes are rare chromosome disorders that arise usually de novo. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies...
- Molecular characterization of an inherited ring (19) demonstrating ring openingMarsha D Speevak
Division of Genetics, Department of Laboratory Medicine, The Credit Valley Hospital, Mississauga, Ontario, Canada
Am J Med Genet A 121:141-5. 2003b>Ring chromosomes arise following breakage in both chromosome arms and rejoining of the centric segment at the broken ends or by end-to-end fusion of the telomeres...
- Ring chromosome instability evaluation in six patients with autosomal ringsC P Sodré
Departamento de Morfologia e Genética da Universidade Federal de São Paulo, Sao Paulo, SP, Brasil
Genet Mol Res 9:134-43. 2010b>Ring chromosomes are often associated with abnormal phenotypes due to loss of genomic material and also because of ring instability at mitosis after sister chromatid exchange events...
- Clinical, cytogenetic and molecular study in a case of r(3) with 3p deletion and review of the literatureR Santos Guilherme
Department of Morphology and Genetics, Universidade Federal de Sao Paulo, Brazil
Cytogenet Genome Res 134:325-30. 2011..This is the first patient with r(3) studied using molecular techniques that determined the exact breakpoints in order to establish a better karyotype-phenotype correlation...
- Inherited ring chromosome 8 without loss of subtelomeric sequencesCedric Le Caignec
Service de Genetique Medicale, Plateau Technique, Centre Hospitalo Universitaire, 9, quai Moncousu, 44093 Nantes Cedex, France
Ann Genet 47:289-96. 2004..These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence...
- Ring chromosome 15: characterization by array CGHIan A Glass
Department of Pediatrics, University of Washington, M2 9, 4800 Sand Point Way NE, Seattle, 98105, USA
Hum Genet 118:611-7. 2006..These cases illustrate the utility of array CGH characterization for determining the size of the associated deletion in ring chromosomes and for facilitating phenotype-genotype correlations.
- The structure and dynamics of ring chromosomes in human neoplastic and non-neoplastic cellsD Gisselsson
Department of Clinical Genetics, Lund University Hospital, Sweden
Hum Genet 104:315-25. 1999Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumours...
- Characterization of a hotspot region on chromosome 12 for amplification in ring chromosomes in atypical lipomatous tumorsDomenico Trombetta
Department of Genetics and Microbiology, University of Bari, Bari, Italy
Genes Chromosomes Cancer 48:993-1001. 2009b>Ring chromosomes are cytogenetic hallmarks of genomic amplification in several bone and soft tissue tumors, in particular atypical lipomatous tumors (ALT)...
- Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segmentsAtiya Mansoor
Department of Pathology, Oregon Health and Sciences University, Portland, OR 97239, USA
Cancer Genet Cytogenet 152:61-5. 2004..We describe here a second case showing supernumerary ring chromosomes, and a derivative chromosome 13, with additional material on the short arm...
- Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new casesSandra Chantot-Bastaraud
Service d Histologie, Biologie de la Reproduction et Cytogénétique UPMC EA 1533, Hopital Tenon AP HP, 75020 Paris, France
Ann Genet 47:241-9. 2004..Both ring chromosomes were labelled by FISH using the Williams Syndrome locus probe (Elastin Gene D7S486)...
- Ring 14 chromosome presenting as early-onset isolated partial epilepsyDorothée Ville
Department of Pediatric Neurology, Hopital Femme Mere Enfant, Lyon, France
Dev Med Child Neurol 51:917-22. 2009..Many unanswered questions remain concerning phenotype-genotype correlation and identification of the potential genes and molecular mechanisms responsible for epilepsy in patients with ring 14 syndrome...
- Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequencesJ R Vermeesch
Center for Human Genetics, University of Leuven, Belgium
Clin Genet 62:415-7. 2002....
- Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin
Department of Pathology and Laboratory Medicine, The Children s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, 19104, USA
J Med Genet 48:1-9. 2011..The ring chromosome 20 syndrome (R20) is a rare genetic disorder associated with a refractory electroclinical epilepsy syndrome and variably expressed comorbidities of intellectual disability and dysmorphism...
- Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesityCéline Bonnet
Laboratoire de Génétique EA 3441, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France
Am J Med Genet A 140:233-7. 2006..2 and including the insulin-like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene...
- Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletionJeroen Knijnenburg
Department of Molecular Cell Biology, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 15:548-55. 2007b>Ring chromosomes are rare cytogenetic findings and are associated at phenotypic level with mental retardation and congenital abnormalities...
- Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observationsJ J Luciani
J Med Genet 40:690-6. 2003
- Molecular characterisation of a ring chromosome 22 in a patient with severe language delay: a contribution to the refinement of the subtelomeric 22q deletion syndromeP De Mas
J Med Genet 39:e17. 2002
- Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: a detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-color FISHClaudia Schoch
Department of Internal Medicine III, University Hospital Grosshadern, Ludwig Maximilians University, Munich, Germany
Genes Chromosomes Cancer 35:20-9. 2002....
- Genomic profiling of bone and soft tissue tumors with supernumerary ring chromosomes using tiling resolution bacterial artificial chromosome microarraysM Heidenblad
Department of Clinical Genetics, Lund University Hospital, Lund, Sweden
Oncogene 25:7106-16. 2006b>Ring chromosomes and/or giant marker chromosomes have been observed in a variety of human tumor types, but they are particularly common in a subgroup of mesenchymal tumors of low-grade or borderline malignancy...
- Early pattern of epilepsy in the ring chromosome 20 syndromeDorothée Ville
Department of Clinical Neurophysiology, Hopital Necker Enfants Malades, Paris, France
Epilepsia 47:543-9. 2006..The mode of onset most often remains imprecise. To clarify this onset period, we studied the early-onset features in our personal series and in the reported pediatric cases...
- Association of microcephaly and cafe-au-lait spots in a patient with ring chromosome 12 syndromeP R G Zen
Programa de Pós Graduação em Patologia and Disciplina de Genética Clínica, Fundacao Faculdade Federal de Ciencias Medicas, Rua Sarmento Leite 245 403, Porto Alegre, RS 90050 170, Brazil
Clin Dysmorphol 14:141-3. 2005..The similarity of our patient to those previously described suggests that the ring chromosome 12 syndrome can be delineated as a distinct entity with characteristic clinical features...
- Molecular and phenotypic characterization of ring chromosome 22Aaron R Jeffries
Department of Neuroscience, Institute of Psychiatry, Denmark Hill, London SE5 8AF, United Kingdom
Am J Med Genet A 137:139-47. 2005..Internal organ involvement was uncommon. Even though ring chromosomes are reportedly associated with growth abnormalities, only 2 out of 24 individuals showed evidence of growth ..
- Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2H Kehrer-Sawatzki
Abteilung Humangenetik, Ulm, Germany
Hum Genet 100:67-74. 1997..The instability of the ring chromosome 22 with the associated loss of tumor suppressor genes on chromosome 22, in particular the loss of the NF2 gene, are assumed to have caused multiple tumorigenesis in this patient...
- Ring chromosome 17: phenotype variation by deletion sizeV Shashi
Department of Pediatrics Medical Genetics, Wake Forest University School of Medicine, Winston Salem, NC 27157, USA
Clin Genet 64:361-5. 2003..This classification of ring 17 into two distinct groups based on the size of the deletion and the phenotypic manifestations should facilitate clinical suspicion of this rare chromosomal abnormality...
- Five new subjects with ring chromosome 22H A Ishmael
The Children s Mercy Hospitals and Clinics and University of Missouri Kansas City School of Medicine, Kansas City, MO, USA
Clin Genet 63:410-4. 2003..Similarly, recessive alleles unmasked by the deletion could also contribute to the phenotype...
- PET evidence for a role of the basal ganglia in patients with ring chromosome 20 epilepsyA Biraben
Service de Neurologie, CHU Pontchaillou, Rennes, France
Neurology 63:73-7. 2004..The hypothesis that these long-lasting seizures are associated with a reduction of striatal dopamine was addressed in the present study in drug-resistant patients with r(20) epilepsy using PET...
- Mosaicism and phenotype in ring chromosome 20 syndromeT Nishiwaki
Department of Neurology, Nara Medical University, Nara, Japan
Acta Neurol Scand 111:205-8. 2005..Our results provide important clinical information and prediction for r(20) syndrome...
- Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formationE Rossi
Biologia Generale e Genetica Medica, Universita di Pavia, Pavia, Italy
J Med Genet 45:147-54. 2008b>Ring chromosomes are often associated with abnormal phenotypes because of loss of genomic material at one or both ends. In some cases no deletion has been detected and the abnormal phenotype has been attributed to mitotic ring instability...
- Detailed characterization of 12 supernumerary ring chromosomes using micro-FISH and search for uniparental disomyB M Anderlid
Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Stockholm, Sweden
Am J Med Genet 99:223-33. 2001Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied. The ring chromosomes were characterized using microdissection in combination with degenerate nucleotide-primed polymerase chain reaction (..
- Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2T Tsilchorozidou
J Med Genet 41:529-34. 2004
- A girl with cutaneous hyperpigmentation, café au lait spots and ring chromosome 15 without significant deletionE Morava
University of Pecs, Medical Faculty, Department of Medical Genetics and Child Development, Pecs, 7623 Hungary
Genet Couns 14:337-42. 2003..Patchy skin hypopigmentation is a well known nonspecific sign in cytogenetic mosaicism which is commonly seen in ring syndrome...
- Meiotic origin of two ring chromosomes 18 in a girl with developmental delayA Baumer
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
Am J Med Genet 113:101-4. 2002..Our results show a paternal origin of the structurally normal chromosome 18 and a maternal origin for both ring chromosomes 18...
- Chromosome 18 replaced by two ring chromosomes of chromosome 18 originK Miller
Institute of Human Genetics, Hannover Medical University, 30623 Hannover, Germany
Hum Genet 112:343-7. 2003We here describe the first example of the replacement of an autosome by two ring chromosomes originating from the missing chromosome, presented in a patient with a single chromosome 18 and two additional ring chromosomes...
- Mosaic ring 20 with no detectable deletion by FISH analysis: Characteristic seizure disorder and literature reviewYing S Zou
Cytogenetics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Med Genet A 140:1696-706. 2006....
- Molecular characterization of a de novo ring chromosome 6 in a growth retarded but otherwise healthy womanMartina Höckner
Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University of Innsbruck, Innsbruck, Austria
Am J Med Genet A 146:925-9. 2008..Thus this case clearly shows that in patients with ring chromosomes without loss of euchromatic material mitotic instability of the ring chromosome is the most important reason ..
- Ring-20-syndrome and loss of telomeric regionsD Garcia-Cruz
Division de Genetica, Centro de Investigacion Biomedica de Occidente, CMNO, IMSS, Guadalajara, Jalisco, Mexico
Ann Genet 43:113-6. 2000..The mother had normal karyotype. The clinical and cytogenetic features of previous cases described in the literature were compared leading to a better characterization of this syndrome...
- An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic rootJ L Ivanovich
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA
Am J Med Genet 98:182-4. 2001Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies...
- Supernumerary ring chromosomes in dermatofibrosarcoma protuberans may contain sequences from 8q11.2-qter and 17q21-qter: a combined cytogenetic and comparative genomic hybridization studyJ Nishio
Department of Pathology, School of Medicine, Nanakuma, Jonan-ku, Fukuoka University, Fukuoka, Japan
Cancer Genet Cytogenet 129:102-6. 2001..characteristic cytogenetic features such as reciprocal t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing sequences from chromosomes 17 and 22...
- Ring chromosome 20 epilepsy syndrome in children: electroclinical featuresP B Augustijn
Meer en Bosch and De Cruquiushoeve, Stichting Epilepsie Instellingen Nederland, Heemstede, The Netherlands
Neurology 57:1108-11. 2001..This emphasizes the importance of full-night video-EEG in children with frontal lobe seizures and cognitive deterioration...
- De novo ring chromosome 6 in a child with multiple congenital anomaliesHadi Ahmad Ahzad
Human Genetics Unit, Advanced Medical and Dental Institute, Universiti Sains Malaysia, Lot 29, Taman Bertam Indah, Kepala Batas, Penang, Malaysia
Kobe J Med Sci 56:E79-84. 2010..To the best of our knowledge, this is the first report of a Malay individual with ring chromosome 6, and this report adds to the collective knowledge of this rare chromosome abnormality...
- More severe epilepsy and cognitive impairment in the offspring of a mother with mosaicism for the ring 20 chromosomeEila Herrgard
Kuopio Epilepsy Center, FIN 70211 Kuopio, Finland
Epilepsy Res 73:122-8. 2007..Cases tend to be sporadic. We elucidate the characteristics of an inherited r(20) mosaicism by describing the clinical features of three family members: a mother and her two children...
- Ring chromosome 20 syndrome: a link between epilepsy onset and neuropsychological impairment in three childrenAglaia Vignoli
Epilepsy Centre, San Paolo Hospital, University of Milan, Milan, Italy
Epilepsia 50:2420-7. 2009..Epilepsy is often the most important clinical manifestation of the syndrome, even if its appearance is not constantly precocious. Seizures are frequently drug resistant...
- Ring chromosomes in human neoplasiasE Gebhart
Institute of Human Genetics, University of Erlangen Nurnberg, Erlangen Germany
Cytogenet Genome Res 121:149-73. 2008Though reported from a wide variety of human neoplasias, ring chromosomes, in general, are a rare finding in these diseases. The majority were detected by chance when tumors were screened for chromosomal aberrations...
- Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniquesH Tonnies
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Cytogenet Genome Res 103:28-33. 2003....
- A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1qA J Dawson
Cytogenetics Laboratory, Health Sciences Centre, University of Manitoba, Winnipeg, Manitoba, Canada
Am J Med Genet A 124:303-6. 2004..However, the lower percentage of mosaicism for the dup(1) in our patient would suggest a milder influence on the clinical phenotype...
- Ring (Y) in two azoospermic menYing Hui Lin
Department of Obstetrics and Gynecology, National Cheng Kung University Medical College, Tainan, Taiwan
Am J Med Genet A 128:209-13. 2004..Spermatogenic defects in men with r(Y) may result from deletion of Y-linked AZFs combined with synaptic failure...
- Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancerMaki Fukami
Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan
Am J Med Genet A 137:72-6. 2005..The results, in conjunction with those reported by Flanagan et al. , suggest that a cis-acting enhancer exists in the SHOX 3' region around DXYS233...
- Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndromeLouise Chuang
Department of Obstetrics and Gynecology, National Cheng Kung University Medical College and Hospital, 138 Victory Road, Tainan, Taiwan, Republic of China
Am J Med Genet A 133:180-3. 2005..12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome...
- Mosaic supernumerary r(8) syndromeS Yilmaz
Genet Couns 16:187-90. 2005
- Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor
Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville 3052, Victoria, Australia
Am J Med Genet A 133:151-7. 2005..The ring chromosome appears to be prone to low-level misdivision and loss in vitro which, in vivo, must be countered by selection for the balanced karyotype because the level of mosaicism has remained stable over 13 years...
- Supernumerary ring chromosome 20 in a mother and her childM R Pinto
Instituto de Genética Médica Dr Jacinto de Magalhães, Praça Pedro Nunes 88, 4050 466 Porto, Portugal
Am J Med Genet A 133:193-6. 2005..To our knowledge, this is the first report of a familial extra ring 20 mosaicism...
- Phenotype and X inactivation in 45,X/46,X,r(X) casesKathleen A Leppig
Genetic Services, Group Health Permanente, Seattle, Washington 98112, USA
Am J Med Genet A 128:276-84. 2004....
- Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosomeM G E M Ausems
Department of Medical Genetics, University Medical Center, Utrecht
Genet Couns 15:405-10. 2004..The girl showed developmental delay, cerebral visual impairment, obesity and mild dysmorphic features. Her clinical data at 6 months, 3 years, and 6 years of age were compared with the clinical data on other trisomy 12p patients...
- Mosaic ring chromosome 14 and monosomy 14 presenting with growth retardation, epilepsy, and blepharophimosisJia Woei Hou
Division of Medical Genetics, Department of Pediatrics, Chang Gung Children s Hospital, Taipei
Chang Gung Med J 27:373-8. 2004b>Ring chromosomes are rare chromosomal anomalies and usually not stable in nature. Patients carrying ring chromosome have various phenotypes depending on the degree of structural rearrangement...
- Mosaic ring 12p and total anomalous pulmonary venous returnDarren L Harris
Department of Pathology, West Virginia University School of Medicine, Morgantown, West Virginia, USA
Am J Med Genet A 131:91-3. 2004..We believe ours is the first case to report the occurrence of mosaic ring 12p and its association with TAPVR...
- Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)Kenji Kurosawa
Am J Med Genet A 130:322-4. 2004
- Transmission of ring chromosome 13 from a mother to daughter with both having a 46,XX, r(13)(p13q34) karyotypeJirair K Bedoyan
Department of Genetic and Metabolic Disorders, Children s Hospital of Michigan, Detroit, Michigan 48201, USA
Am J Med Genet A 129:316-20. 2004b>Ring chromosomes are thought to be the result of breakage in both arms of a chromosome, with fusion of the points of fracture and loss of the distal fragments...
- Supernumerary ring chromosome 8: clinical and molecular cytogenetic characterization in a case reportEliana Demori
Medical Genetics Service, Children Hospital I R C C S Burlo Garofolo, Trieste, Italy
Am J Med Genet A 130:288-94. 2004..We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype-phenotype correlation...
- Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delayG von Beust
Institute of Human Genetics, University of Goettingen, Germany
Am J Med Genet A 137:59-64. 2005..This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results...
- A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomyMarion Werner
Department of Human Genetics, Hadassah Hebrew University Hospital and Medical School, Jerusalem, Israel
Am J Med Genet A 129:176-9. 2004..The Prader-Willi features were the result of the low mosaicism of the SMC. The evolution of the maternal heterodisomy and the SMC were two unrelated events, the occurrence of both events in the same embryo rescued it from lethality...
- "Ring syndrome" involving chromosome 2 confirmed by FISH analysis using chromosome-specific subtelomeric probesT Kosho
Division of Medical Genetics, Saitama Children s Medical Center, Iwatsuki, Saitama 339 8551, Japan
Genet Couns 16:65-70. 2005Ring syndrome" is described as those cases with complete ring chromosomes showing, independently of the chromosome involved, severe growth failure, minor dysmorphic features, and mild-to-moderate mental retardation, without major ..
- A case of ring chromosome 22 with deletion of the 22q13.3 region associated with agenesis of the corpus callosum, fornix and septum pellucidumJose Delcan
Unidad de Anatomía y Embriología Humana, Universidad Rey Juan Carlos, Madrid, Spain
Prenat Diagn 24:635-7. 2004..The wide range of manifestations observed in patients with this cytogenetic alteration is probably due to size differences in the deleted region...
- Malignant refractory epilepsy in identical twins mosaic for a supernumerary ring chromosome 19Amre Shahwan
Department of Paediatric Neurology, The Children s University Hospital, Dublin, Ireland
Epilepsia 45:997-1000. 2004..The clinical picture of these twins emphasizes the importance of carrying out a karyotype study on patients with early-onset epilepsy even in the absence of dysmorphic features...
- Insights from genomic microarrays into structural chromosome rearrangementsJeroen Knijnenburg
Laboratory for Cytochemistry and Cytometry, Department of Molecular Cell Biology, Leiden University Medical Center LUMC, Leiden, The Netherlands
Am J Med Genet A 132:36-40. 2005..the structural basis of chromosome rearrangement, including instability and mechanisms of formation of ring chromosomes. We also showed that array results might impact the recurrence risks for relatives of affected individuals...
- Mosaic monosomy 14: clinical features and recognizable faciesV McConnell
Department of Medical Genetics, Belfast City Hospital Trust, Belfast, UK
Clin Dysmorphol 13:155-60. 2004..A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation...
- Ring chromosome 4 in a patient with early onset type 2 diabetes, deafness, and developmental delayPiers R Blackett
Section of Diabetes and Endocrinology, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Am J Med Genet A 137:213-6. 2005..The 4q breakpoint was close to the telomere. The phenotype appears different from previous patients with 4p- or r(4), which have had more extensive 4p deletion...
- An active ring X and haploinsufficiency of SHOX contribute to short stature, congenital anomalies, and developmental delay in a femaleMary Shago
Department of Pediatric Laboratory Medicine, Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
Am J Med Genet 113:279-85. 2002..Deletion of one copy of the SHOX gene was detected in this patient. Haploinsufficiency of this gene is known to be correlated with short stature and mesomelic limb shortening...
- Characterization of supernumerary rings and giant marker chromosomes in well-differentiated lipomatous tumors by a combination of G-banding, CGH, M-FISH, and chromosome- and locus-specific FISHF Micci
Department of Cancer Genetics, The Norwegian Radium Hospital, Oslo, Norway
Cytogenet Genome Res 97:13-9. 2002Supernumerary ring chromosomes and/or giant marker chromosomes are often seen in soft-tissue tumors of low-grade or borderline malignancy, such as well-differentiated liposarcomas or atypical lipomas...
- Revaluation twenty-three years later of a supernumerary derivative chromosome 9Catherine Yardin
Am J Med Genet 111:213-4. 2002
- De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literatureG V N Velagaleti
Departments of Pediatrics and Pathology, University of Texas Medical Branch, Galveston, TX USA
Clin Genet 61:202-6. 2002..A review of the literature identified a total of 18 cases with ring chromosomes 7 who can be classified into two groups: (1) patients with a cell line that has 47 chromosomes with a small ..
- Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlationLaura Bernardini
Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo e Istituto CSS Mendel, Roma, Italy
Eur J Med Genet 50:94-102. 2007Genetic counselling of patients with small supernumerary ring chromosomes (sSRCs) can be difficult, especially in prenatal testing, due to the complexity in establishing a karyotype-phenotype correlation...
- An unexpected finding in a child with neurological problems: mosaic ring chromosome 18Altug Koc
Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey
Eur J Pediatr 167:655-9. 2008..The presented case will contribute to the identification of the genotype-phenotype correlation in chromosome 18 anomalies...
- Cytogenetic investigation of a child with a mosaic isochromosome 18q and ring 18qNoelle Souraty
Unite de Genetique Medicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
Eur J Med Genet 50:379-85. 2007..Molecular cytogenetic investigations confirmed that it was an i(18q) and a r(18q). The hypothesis to account for this anomaly and its corresponding phenotype are discussed...
- Molecular cytogenetic and clinical findings in a patient with a small supernumerary r(8) mosaicismDaniela Bettio
Cytogenetic Laboratory, Operative Unit of Clinical Investigations, Humanitas Clinical Institute, IRCCS, Rozzano, Milan, Italy
Am J Med Genet A 146:247-50. 2008
- [Identification and characterization of marker chromosome in Turner syndrome]Yue Qiu Tan
Institute of Reproduction and Stem Cell Engineering, Central South University, Changsha, China
Zhonghua Fu Chan Ke Za Zhi 42:679-82. 2007..To analyze the karyotypes of 11 cases of Turner syndrome with marker chromosome, and study the phenotypic effects resulting from the abnormal karyotype...
- A boy with small supernumerary marker chromosome X identified by FISHA Koc
Department of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Turkey
Genet Couns 18:393-9. 2007..In this report, clinical features of our patient are compared with previously reported cases and the cytogenetic and molecular cytogenetic techniques used to detect origin of marker chromosome are discussed...
- Ring chromosome 7 in an Indian womanAnupam Kaur
Centre for Genetic Disorders, Guru Nanak Dev University, Amritsar, India
J Intellect Dev Disabil 33:87-94. 2008..Ring chromosome 7 [r(7)] is a rare cytogenetic aberration, with only 16 cases (including 3 females) reported in the literature to date. This is the first reported case of r(7) from India...
- Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspringNancy B Spinner
Division of Human Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Am J Med Genet A 146:1828-31. 2008..This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction...
- Muellerian aplasia associated with ring chromosome 8p12q12 mosaicismJudith Loeffler
Institut fur Medizinische Biologie und Humangenetik, Universitat Innsbruck, Austria
Am J Med Genet A 116:290-4. 2003..Chromosome microdissection and reverse painting demonstrated that this marker contained pericentric material from chromosome 8 (8p12q12). Thus, we identified a Muellerian aplasia phenotype with partial trisomy 8 mosaicism...
- Ring chromosome 4 and Wolf-Hirschhorn syndrome (WHS) in a child with multiple anomaliesSevim Balci
Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Dogramaci Children s Hospital, Ankara, Turkey
Am J Med Genet A 140:628-32. 2006..Both maternal and paternal chromosomal analyses were normal. We compare the phenotypic appearance of our patient with the previously reported 16 cases of ring chromosome 4 in the medical literature...
- Ring chromosome 12 with variable phenotypic features: clinical report and review of the literatureRamesh C Parmar
The Genetics Division, Department of Pediatrics, Seth G S Medical College and K E M Hospital, Parel, Mumbai 400 055, India
Am J Med Genet A 117:275-7. 2003..Examination of 200 metaphases demonstrated 2% cell line was showing 45,XX, -12. Serum lactate dehydrogenase (LDH) level was normal ruling out overlapping monosomy 12 syndrome...
- Class II neocentromeres: a putative common neocentromere site in band 4q21.2Pamela C Warburton
Cytogenetics Department, Genetics Centre, 5th Floor Guy s Tower, London SE1 9RT, UK
Eur J Hum Genet 11:749-53. 2003..There has been one previous report of neocentromere formation in band 4q21; the observation presented here might refine a putative common neocentromeric site to sub-band 4q21.2...
- Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotypeLoredana D'Amato Sizonenko
Northern Regional Genetic Service, Auckland District Health Board, New Zealand
Am J Med Genet 111:19-26. 2002..This brings to seven the total of reported SMCs derived from chromosome 5. The phenotype is clear, and the level of mosaicism of the marker chromosomes is contributory to the clinical severity...
- Small supernumerary marker chromosome derived from proximal p-arm of chromosome 2: identification by fluorescent in situ hybridizationRuzica Lasan Trcić
Division of Genetics and Metabolism, Cytogenetic Laboratory, Department of Pediatrics, Zagreb University Hospital Center, Zagreb, Croatia
Croat Med J 44:477-9. 2003..This case shows that molecular cytogenetic analysis can reveal the mechanism of the formation of the marker chromosome...
- Characterization of a supernumerary ring chromosome 1 mosaicism in two cell systems by molecular cytogenetic techniques and review of the literatureHolger Tonnies
Institute of Human Genetics, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Am J Med Genet A 121:163-7. 2003....
- Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardationD Concolino
Am J Med Genet A 123:201-3. 2003
- The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome femalesT Kubota
Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan
Cytogenet Genome Res 99:276-84. 2002..One of the cases with severe MR and a complete FXD pattern neither lacked the XIST gene nor had uniparental X isodisomy, and we discuss the mechanism of the failure of XCI in this case...
- Ring chromosomes and low-grade gene amplification in an atypical lipomatous tumor with minimal nuclear atypiaClelia Tiziana Storlazzi
Department of Clinical Genetics, Lund University Hospital, 221 85 Lund, Sweden
Int J Oncol 23:67-71. 2003Atypical lipomatous tumors (ALTs) are characterized by supernumerary ring chromosomes and/or giant marker chromosomes, which typically are composed of interspersed, amplified 12q-sequences, are C-band negative, lack alpha-satellite ..
- Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGHJoris A Veltman
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands
Am J Hum Genet 72:1578-84. 2003..to be applicable to the detection of genetic mosaicisms and, in particular, to a detailed delineation of ring chromosomes. This study clearly demonstrates the power of the arrayCGH technology in high-resolution molecular ..
- Three new cases with a supernumerary ring chromosome 1Laura Rodriguez
Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Madrid, Spain
Clin Dysmorphol 14:169-75. 2005..e. 48%, 25% and 14% of the cells, respectively. Clinical signs and symptoms vary between the three cases. The results of our three cases are compared with those from the literature...
- SKY assessment of two karyotypes with 0-6 supernumerary marker/ring chromosomes and review of previously reported cases with two or more markersKavita S Reddy
Department of Cytogenetics, Quest Diagnostics, Inc, San Juan Capistrano, California, USA
Am J Med Genet A 118:156-71. 2003..2, and TUPLE gene that maps to 22q11.2 did not give a signal on the markers. As expected for a majority of ring chromosomes, the pan telomere probe did not hybridize to any of the markers...
- GENETIC STUDIES OF HUMAN CELLSBARBARA MIGEON; Fiscal Year: 2001..We have uncovered X-chromosomal deletions (small ring chromosomes) which interfere with the chromosome's ability to inactivate, and result in severe congenital abnormalities...
- RIBOSOMAL GENE REPLICATION DURING MAGNIFICATIONSHARYN ENDOW; Fiscal Year: 1990..A second class of mutation, the Ring magnifier (Rm) mutations, results in magnification of bb in ring chromosomes; these alleles do not magnify in the absence of Rm...
- Schizophrenia Predisposition in 22q11 Deletion SyndromeVandana Shashi; Fiscal Year: 2005..abstract_text> ..
- Molecular Analysis of Alagille SyndromeNANCY SPINNER; Fiscal Year: 2006..abstract_text> ..