Research Topics
| L G ShafferSummaryAffiliation: Signature Genomic Laboratories Country: USA Publications
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Detail Information
Publications
Application of array-based comparative genomic hybridization to clinical diagnosticsBassem A Bejjani
Signature Genomic Laboratories, LLC, 44 W 6th Ave, Suite 202, Spokane, WA 99204, USA
J Mol Diagn 8:528-33. 2006..This new platform is poised to revolutionize modern cytogenetic diagnostics and to provide clinicians with a powerful tool to use in their increasingly sophisticated diagnostic capabilities...
Array-based comparative genomic hybridization in clinical diagnosisBassem A Bejjani
Signature Genomic Laboratories, 44 West 6th Avenue, Suite 202, Spokane, WA 99204, USA
Expert Rev Mol Diagn 5:421-9. 2005....
Williams syndrome in a preterm infant with phenotype of Alagille syndromePrakesh S Shah
Department of Pediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
Am J Med Genet A 146:2407-11. 2008..This case illustrates the importance of microarray analysis in diagnosing genetic conditions, especially in preterm babies whose facial and other clinical manifestations have not fully developed...- Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocationLisa G Shaffer
Health Research and Education Center, Washington State University, Spokane, WA 99210 1495, USA
Prenat Diagn 26:303-7. 2006..However, these collective data have provided the opportunity to derive an overall risk estimate for UPD in the fetus after the prenatal identification of a ROB... - Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical casesLisa G Shaffer
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
J Pediatr 149:98-102. 2006..To assess the yield of array-based comparative genomic hybridization... - In the middle of it all: a centered approach to chromosome analysisLisa G Shaffer
Signature Genomic Laboratories, 120 N Pine St, Spokane, WA 99202, USA 1 509 474 6840 1 509 474 6839
Expert Opin Med Diagn 2:221-9. 2008..Results/discussion: The MarkerChip demonstrates the utility of constructing a microarray for the analysis of chromosome abnormalities with coverage concentrated on areas of the genome particularly susceptible to rearrangement... - Identification of a rare de novo three-way complex t(5;20;8)(q31;p11.2;p21) with microdeletions on 5q31.2, 5q31.3, and 8p23.2 in a patient with hearing loss and global developmental delay: case reportRoland Haj
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 2:2. 2009..Although most CCRs appear balanced at the level of the light microscope, many demonstrate cryptic, submicroscopic imbalances at the translocation breakpoints... - Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case reportRyan N Traylor
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 2:17. 2009..Reported 6q deletion patients show a high incidence of mental retardation, ear anomalies, hypotonia, and postnatal growth retardation... - Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGHNicholas J Neill
Signature Genomic Laboratories, Spokane, WA, USA
Mol Cytogenet 3:11. 2010.... - Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint regionYong hui Jiang
Department of Molecular, Baylor College of Medicine, Houston, TX 77030, USA
BMC Genomics 9:50. 2008..Taking advantage of the human genome sequence, we have performed extensive sequence analysis and molecular studies for the PWS candidate region... - Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimensLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99202, USA
Prenat Diagn 28:789-95. 2008..To compare the detection rate by microarray analysis for chromosome abnormalities in a prenatal population to that of a neonatal population referred for diagnostic testing... - Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplicationBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA, USA
Mol Cytogenet 1:8. 2008..6 Mb common-sized deletion. Given the molecular mechanism causing the deletion, the reciprocal duplication is anticipated to occur with equal frequency, although only one family with this duplication has been reported... - The identification of microdeletion syndromes and other chromosome abnormalities: cytogenetic methods of the past, new technologies for the futureLisa G Shaffer
Signature Genomic Laboratories, LLC, 120 N Pine Street, Ste 242C, Spokane, WA 99202, USA
Am J Med Genet C Semin Med Genet 145:335-45. 2007..c) 2007 Wiley-Liss, Inc... - Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosisLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99202, USA
Am J Med Genet C Semin Med Genet 145:87-98. 2007..The benefits and limitations of each technology will be discussed in the context of prenatal diagnosis... - Medical applications of array CGH and the transformation of clinical cytogeneticsL G Shaffer
Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
Cytogenet Genome Res 115:303-9. 2006.... - The discovery of microdeletion syndromes in the post-genomic era: review of the methodology and characterization of a new 1q41q42 microdeletion syndromeLisa G Shaffer
Health Research and Education Center, Washington State University, Spokane, Washington, USA
Genet Med 9:607-16. 2007..We report as an illustrative example the characterization of a novel microdeletion syndrome of 1q41q42... - Assessing karyotype precision by microarray-based comparative genomic hybridization in the myelodysplastic/myeloproliferative syndromesMarilyn L Slovak
Signature Genomics, Spokane, WA, USA
Mol Cytogenet 3:23. 2010.... - Development of new postnatal diagnostic methods for chromosome disordersLisa G Shaffer
Signature Genomic Laboratories, Spokane, WA 99207, USA
Semin Fetal Neonatal Med 16:114-8. 2011.... - Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problemsTrilochan Sahoo
Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
Genet Med 13:868-80. 2011.... - Clinical and molecular cytogenetic characterization of four patients with unbalanced translocation der(1)t(1;22)(p36;q13)Marzena Gajecka
School of Molecular Biosciences, Washington State University, Spokane, Washington, USA
Am J Med Genet A 146:2777-84. 2008..One balanced translocation carrier parent had disruption of the period homolog 3 (PER3) gene and reported sleep disturbances. Overall, patients tended to have more features consistent with deletion of 1p36 than duplication of 22q... - Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2B C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
Clin Genet 74:469-75. 2008..1q12.2 is a rare, emerging syndrome. These results illustrate that aCGH is particularly suited to identify rare chromosome abnormalities in patients with apparently non-syndromic idiopathic mental retardation and birth defects... - Characterization of a complex rearrangement with interstitial deletions and inversion on human chromosome 1Marzena Gajecka
Health Research and Education Center, Washington State University, Box 1495, Spokane, WA, USA
Chromosome Res 14:277-82. 2006..The discovery of cryptic events in seemingly simple chromosome rearrangements may provide the basis for proposing mechanisms of formation... - Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletionsJill A Rosenfeld
Signature Genomic Laboratories, Spokane, Washington, USA
Am J Med Genet A 152:1951-9. 2010..Characterization of small deletions is important for narrowing critical intervals and for the identification of causative or candidate genes for features of monosomy 1p36 syndrome... - Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif
Signature Genomic Laboratories, Spokane, Washington 99202, USA
Nat Genet 39:1071-3. 2007..2-p12.2 constitute a previously undescribed syndrome... - Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarrayJustine Coppinger
Signature Genomic Laboratories, Spokane, WA, USA
Prenat Diagn 29:1156-66. 2009..To determine the detection rates of whole-genome microarray technology compared to targeted microarray analysis for chromosome abnormalities in prenatal samples submitted for diagnostic testing... - Comparative genomic hybridization by microarray for the detection of cytogenetic imbalanceMalgorzata Jarmuz
Health Research and Education Center, Washington State University, Spokane, WA, USA
Methods Mol Med 128:23-31. 2006..Properly constructed, microarrays have the potential to be a valuable tool for the detection of chromosomal abnormalities in cancer and genetic disease... - Impact of genotype-first diagnosis: the detection of microdeletion and microduplication syndromes with cancer predisposition by aCGHSara Anne Adams
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
Genet Med 11:314-22. 2009..In these cases, diagnosis before the manifestation of the patient's full phenotype dramatically impacts genetic counseling, clinical management, and eventual prognosis and survivability... - aCGH detects partial tetrasomy of 12p in blood from Pallister-Killian syndrome cases without invasive skin biopsyAaron Theisen
Signature Genomic Laboratories, Spokane, Washington 99207, USA
Am J Med Genet A 149:914-8. 2009.... - A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease riskFrancesca Antonacci
Department of Genome Sciences, University of Washington, Seattle, Washington, USA
Nat Genet 42:745-50. 2010..Notably, we show that the S2 configuration harbors directly oriented duplications, specifically predisposing this chromosome to disease-associated rearrangement... - A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33Ryan N Traylor
Signature Genomic Laboratories, Spokane, Washington, United States of America
PLoS ONE 5:e12462. 2010.... - Detecting sex chromosome anomalies and common triploidies in products of conception by array-based comparative genomic hybridizationBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
Prenat Diagn 26:333-9. 2006..However, array CGH, like all CGH procedures, has heretofore been deemed unable to detect ploidy, a major cause of fetal demise and spontaneous miscarriage... - Detection of low-level mosaicism by array CGH in routine diagnostic specimensBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington, USA
Am J Med Genet A 140:2757-67. 2006..Thus, array CGH, which is based on genomic DNA extracted directly from uncultured peripheral blood, may be more likely to detect low-level mosaicism for unbalanced chromosome abnormalities than traditional cytogenetic techniques... - Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionJustine Coppinger
Signature Genomic Laboratories, LLC, Spokane, WA 99207, USA
Hum Mol Genet 18:1377-83. 2009..The variable phenotypes and preponderance of familial cases obfuscate the clinical relevance of the molecular data and emphasize the need for careful parental assessments and clinical correlations... - The use of microarray technology for cytogeneticsBassem A Bejjani
Signature Genomic Laboratories, Spokane, WA, USA
Methods Mol Biol 632:125-39. 2010..Cytogeneticists are uniquely positioned to understand these mechanisms and assist genetic counselors and clinicians in their daily interactions with patients and families... - The clinical utility of enhanced subtelomeric coverage in array CGHBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
Am J Med Genet A 143:1850-7. 2007..Microarrays designed to investigate regions known to be involved in chromosome abnormalities will enhance the detection of cytogenetic abnormalities at unprecedented resolution and frequency... - Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalitiesBlake C Ballif
Signature Genomic Laboratories, Spokane, WA 99207, USA
Am J Hum Genet 86:454-61. 2010.... - Clinical utility of contemporary molecular cytogeneticsBassem A Bejjani
Signature Genomic Laboratories, LLC, Spokane, Washington 99202, USA
Annu Rev Genomics Hum Genet 9:71-86. 2008..Newer methodologies are being developed, which will likely lead to a new understanding of the genome and its relationship to health and disease... - Use of targeted array-based CGH for the clinical diagnosis of chromosomal imbalance: is less more?Bassem A Bejjani
Signature Genomic Laboratories, LLC, Spokane, WA 99204, USA
Am J Med Genet A 134:259-67. 2005.... - Prenatal diagnosis using array CGHCatherine D Kashork
Signature Genomics Laboratories, LLC, Spokane, WA, USA
Methods Mol Biol 444:59-69. 2008..The procedure is reproducible in a clinical setting and provides reliable results in a short period (approximately 5 days). Thus, depending on the array used, array CGH may develop into an excellent tool for prenatal diagnosis... - Identification of cryptic imbalance in phenotypically normal and abnormal translocation carriersMarzena Gajecka
Health Research and Education Center, Washington State University Spokane, Spokane, WA 99210, USA
Eur J Hum Genet 14:1255-62. 2006.... - Cytogenetic analysis of cardiovascular disease: karyotypingMalgorzata Jarmuz
Health Research and Education Center, Washington State University, Spokane, WA, USA
Methods Mol Med 128:1-9. 2006..In this chapter, we describe the basic approach of cytogenetic analysis: arresting the cell in metaphase or prometaphase, the obtaining of metaphase chromosome spreads, and staining and chromosome analysis... - A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delaySanthosh Girirajan
Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
Nat Genet 42:203-9. 2010..Analysis of other microdeletions with variable expressivity indicates that this two-hit model might be more generally applicable to neuropsychiatric disease... - Microarray analysis for constitutional cytogenetic abnormalitiesLisa G Shaffer
Signature Genomic Laboratories, Spokane, Washington, USA
Genet Med 9:654-62. 2007 - Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratoriesKaren D Tsuchiya
Department of Laboratories, Seattle Children s Hospital, Seattle, Washington, USA
Genet Med 11:866-73. 2009..The purpose of this study was to assess the variability in interpretation and reporting of copy number changes that are detected by array-based technology in the clinical laboratory... - A cytogeneticist's perspective on genomic microarraysLisa G Shaffer
Health Research and Education Center, Washington State University Spokane, Sacred Heart Medical Center, and Signature Genomic Laboratories, Spokane, Washington, USA
Hum Reprod Update 10:221-6. 2004..We anticipate that array CGH will be employed in the clinical cytogenetics laboratory in the near future and will lead to the identification of the chromosomal basis of new syndromes and existing genetic conditions... - Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndromeJill A Rosenfeld
Signature Genomic Laboratories LLC, Spokane, WA, USA
PLoS ONE 4:e6568. 2009..Our results suggest that deletion of SATB2 is responsible for several of the clinical features associated with 2q32q33 microdeletion syndrome... - Rearrangements of chromosome 18 illustrate the utility of array-based comparative genomic hybridizationC D Kashork
Signature Genomic Laboratories, Spokane, WA, USA
Cytogenet Genome Res 114:379-83. 2006..Nine cases of aberrations involving chromosome 18 are used to illustrate the use and clinical potential of array CGH... - Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closureMarzena Gajecka
Health Research and Education Center, Washington State University, Spokane, WA 99210, USA
Eur J Hum Genet 13:139-49. 2005..These data emphasize the important role of cytogenetics in investigating and uncovering the etiologies of human genetic disease, particularly cytogenetic imbalances that reveal potentially dosage-sensitive genes... - The Evolution of satellite III DNA subfamilies among primatesMalgorzata Jarmuz
Health Research and Education Center, Washington State University, Spokane 99210, USA
Am J Hum Genet 80:495-501. 2007..Our results show that each SatIII subfamily is an independent evolutionary unit, that the rate of evolution is not uniform between species, and that the evolution within a species is not uniform between chromosomes... - American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardationLisa G Shaffer
Health Research and Education Center, Washington State University Spokane, WA, USA
Genet Med 7:650-4. 2005..It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline... - Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsJill A Rosenfeld
Signature Genomic Laboratories, 2820 N AstorStreet, Spokane, WA 99207, USA
Genet Med 11:797-805. 2009..Previous reports have suggested that the Pitt-Hopkins syndrome phenotype is independent of mutation or deletion type... - Development of a high-density pericentromeric region BAC clone set for the detection and characterization of small supernumerary marker chromosomes by array CGHBlake C Ballif
Signature Genomic Laboratories, LLC, Spokane, Washington 99210 1495, USA
Genet Med 9:150-62. 2007.... - Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)Marzena Gajecka
School of Molecular Biosciences, Washington State University, Spokane, Washington 99202, USA
Genome Res 18:1733-42. 2008..Possible detailed nonhomologous end-joining scenarios for t(1;22) cases are presented. We propose that cryptic imbalances in phenotypically normal, balanced translocation carriers may be more common than currently appreciated... - Identification of sequence motifs at the breakpoint junctions in three t(1;9)(p36.3;q34) and delineation of mechanisms involved in generating balanced translocationsMarzena Gajecka
Health Research and Education Center, Washington State University Spokane, Spokane, WA, 99210-1495, USA
Hum Genet 120:519-26. 2006..We propose a model for balanced translocation formation in humans similar to transposition in bacteria, in which staggered nicks are repaired resulting in duplications and insertions at the translocation breakpoints... - Effects of ozone exposure during microarray posthybridization washes and scanningSteve Byerly
Signature Genomic Laboratories, 2820 N Astor St, Spokane, WA 99207, USA
J Mol Diagn 11:590-7. 2009..We also found that washed microarrays produce the best results when immediately scanned; however, if a low-ozone environment is maintained, there will be little compromise in the data collected... - Familial complex chromosomal rearrangement resulting in a recombinant chromosomeSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Am J Med Genet 109:311-7. 2002..The mother's karyotype included an inverted chromosome 2 and multiple translocations involving chromosomes 3, 5, 8, and 16. No evidence of deletion or duplication that could account for the clinical findings in the child was identified... - Human chromosome 7: DNA sequence and biologyStephen W Scherer
Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada, M5G 1X8
Science 300:767-72. 2003..This approach enabled the discovery of candidate genes for developmental diseases including autism... - Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndromeHeidi A Heilstedt
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:1200-12. 2003..Our clinical findings allow for the more accurate recognition of the syndrome and for proper medical evaluation... - Obligate short-arm exchange in de novo Robertsonian translocation formation influences placement of crossovers in chromosome 21 nondisjunctionSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 72:488-95. 2003..Additionally, we have demonstrated that events that occur in meiosis I can influence events, such as chromatid segregation in meiosis II, many decades later... - Mosaicism in a patient with Down syndrome reveals post-fertilization formation of a Robertsonian translocation and isochromosomeRuma Bandyopadhyay
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 116:159-63. 2003..The mechanism proposed for the formation of the rob(14q21q) in this case is different from that for most de novo rob(14q21q), but similar to a previously reported mosaic case of Down syndrome... - Fluorescence in situ hybridization (FISH) for identifying the genomic rearrangements associated with three myelinopathies. Charcot-Marie-Tooth disease, hereditary neuropathy with liability to pressure palsies, and Pelizaeus-Merzbacher diseaseMansoor S Mohammed
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Methods Mol Biol 217:219-38. 2003 - Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocationsSue Ann Berend
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 111:362-5. 2002..Our results and the large number of case reports in the literature suggest that patients with abnormal phenotypes and acrocentric rearrangements of chromosomes 14 or 15 should be tested for UPD... - Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- miceClemencia Colmenares
Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
Nat Genet 30:106-9. 2002..3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting... - ATR-16 due to a de novo complex rearrangement of chromosome 16Marta S Gallego
Laboratorio de Citogenetica, Servicio de Genetica, Hospital de Pediatría Professor Dr Juan P Garrahan, Buenos Aires, Argentina
Hemoglobin 29:141-50. 2005..The stellate pattern of the iris, a new finding in our patient, may contribute to a better clinical delineation of both syndromes, ATR-16 and/or duplication of 16qter... - Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocationAndre Megarbane
Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon, France
Am J Med Genet 108:69-74. 2002..The phenotype of the twins is most likely related to this cryptic chromosomal rearrangement. The fact that the phenotype in this family partially overlaps with some previously reported phenotypes is discussed... - The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangementsKathryn D McGowan
Radiology Associates/Greystone, Providence, RI, USA
Prenat Diagn 22:141-3. 2002..The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes... - Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouseWeimin Bi
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genome Res 12:713-28. 2002..Our findings will facilitate both the identification of gene(s) responsible for the SMS phenotype and the engineering of an SMS mouse model... - A case of segmental paternal isodisomy of chromosome 14Karen J Coveler
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room S801, Houston, TX 77030, USA
Hum Genet 110:251-6. 2002.... - Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerationsSung-Ryul Kim
Department of Clinical Pathology, Ulsan University Hospital, Ulsan, Korea
Genet Test 6:163-8. 2002..Additionally, infants or children with congenital anomalies who carry a ROB should also be considered for UPD testing... - Subtelomeric FISH uncovers trisomy 14q32: lessons for imprinted regions, cryptic rearrangements and variant acrocentric short armsV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Am J Med Genet 112:23-7. 2002.... - Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomesElizabeth Spiteri
Department of Molecular Genetics, Albert Einstein College of Medicine, 1300 Morris Park Avenue, Bronx, NY 10461, USA
Hum Mol Genet 12:1823-37. 2003..2 and telomeric bands. We hypothesize that these regions are more susceptible to breakage and repair, resulting in translocations... - Microduplication and triplication of 22q11.2: a highly variable syndromeTwila M Yobb
Department of Biological Sciences, University of Alberta, Edmonton, Canada
Am J Hum Genet 76:865-76. 2005..2 microduplication. We strongly recommend that other family members of patients with 22q11.2 microduplications also be tested, since we found several phenotypically normal parents who were carriers of the chromosomal abnormality... - Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndromeJin Yeong Han
Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Seo Gu, Busan, 602 715 Korea
J Hum Genet 51:641-3. 2006..5, which contributed to some of her features consistent with Beckwith-Wiedemann syndrome (BWS). The combined phenotype of BWS and POF suggests that the translocated portion of 11p remains active... - 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... - Identification of a novel polymorphism--the duplication of the NPHP1 (nephronophthisis 1) geneHagit Baris
Division of Genetics, Children's Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
Am J Med Genet A 140:1876-9. 2006 - Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genesRoberto Mendoza-Londono
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genes Chromosomes Cancer 42:82-6. 2005..To our knowledge, this is the first report of a patient with GCPS and leukemia. We hypothesize that constitutional deletion of the ZNFN1A1 gene in this patient may have resulted in an increased risk of lymphoid malignancy... - A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3AYong-Hui Jiang
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 131:1-10. 2004..A mixed epigenetic and genetic and mixed de novo and inherited (MEGDI) model could be relevant to other "complex disease traits"... - New syndrome: focal dermal hypoplasia, morning glory anomaly, and polymicrogyriaPhilip F Giampietro
Department of Medical Genetic Services, Marshfield Clinic, Marshfield, Wisconsin, USA
Am J Med Genet A 124:202-8. 2004..While significant overlap exists between all four of the syndromes discussed, we believe that the constellation of anomalies observed in this girl most likely comprises a newly recognized syndrome... - Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der(1)t(1;1)(p36;q44) suggest mechanisms for telomere capture in stabilizing de novo terminal rearrangementsBlake C Ballif
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Genet 114:198-206. 2004..Alternative models are also discussed... - Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndromeKeiko Wakui
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 13:528-40. 2005..6-46.7 Mb from the 11p terminus... - Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2William B Dobyns
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Am J Med Genet A 146:1637-54. 2008..Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions... - Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletionsWei Yu
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Hum Mol Genet 12:2145-52. 2003..We anticipate that array CGH will change the diagnostic approach to many congenital and acquired genetic diseases such as mental retardation, birth defects and cancer... - Shuffling of genes within low-copy repeats on 22q11 (LCR22) by Alu-mediated recombination events during evolutionMelanie Babcock
Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, New York 10461, USA
Genome Res 13:2519-32. 2003..Such sites may represent focal points for recombination. Thus, genome shuffling by Alu-mediated rearrangements has contributed to genome architecture during primate evolution... - Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage-fusion-bridge cycles are involved in generating terminal deletionsBlake C Ballif
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mol Genet 12:2153-65. 2003.... - Characterization of complex chromosome aberrations in a recurrent meningioma combining standard cytogenetic and array comparative genomic hybridization techniquesKwang Sook Woo
Department of Laboratory Medicine, Dong A University College of Medicine, 1, 3 Ga, Dongdaesin Dong, Seo Gu, Busan, 602 715, Korea
Cancer Genet Cytogenet 180:56-9. 2008..Array CGH corroborated the cytogenetic findings. The presence of a complex cytogenetic profile and progression-associated chromosomal abnormalities in a benign meningioma suggests the existence of underlying molecular events... - Monosomy 1p36 deletion syndromeMarzena Gajecka
Department of Health Research and Education at Washington State University in Spokane, 99210 1495, USA
Am J Med Genet C Semin Med Genet 145:346-56. 2007..In addition, based upon molecular characterization of subjects with monosomy 1p36, several mechanisms for the generation and stabilization of terminal deletions have been proposed... - Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysisCatherine D Kashork
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Prenat Diagn 22:1028-32. 2002..Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth... - Re: Familial cryptic translocation (2;17) ascertained through recurrent spontaneous abortions: Bruyere H, Rajcan-Separovic E, Doyle J, Pantzar T, Langlois SCarlos A Bacino
Am J Med Genet A 130:439-40. 2004 - Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and femalesKen Inoue
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 71:838-53. 2002..In one family, junction sequences revealed a complex recombination event. Our data suggest that PLP1 deletions are likely caused by nonhomologous end joining... - Comments on editorial entitled "ISCN (2005) is not acceptable for describing clonal evolution in cancer"Lynda J Campbell
Genes Chromosomes Cancer 46:514-5; author reply 516. 2007 - Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocationsZhishuo Ou
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Rm T821, Houston, TX 77030, USA
Hum Genet 120:227-37. 2006..Our results support previous observations that the USP6 oncogene, LCRs, and repetitive DNA sequences play a significant role in the origin of constitutional chromosome aberrations and primate genome evolution... - Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomesNatalia V Kovaleva
Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 121:180-7. 2003..However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found... - Parental origin and timing of de novo Robertsonian translocation formationRuma Bandyopadhyay
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Am J Hum Genet 71:1456-62. 2002..quot; Thus, we demonstrate that although both classes of ROBs occur predominantly during meiosis, the common, class 1 ROBs occur primarily during oogenesis and likely form through a mechanism distinct from that forming class 2 ROBs...