chromosome disorders


Summary: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)

Top Publications

  1. Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, et al. Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics. 2012;5:57 pubmed publisher
    ..Conventional prenatal screening tests, such as maternal serum tests and ultrasound scan, have limited resolution and accuracy...
  2. Bianchi D, Parker R, Wentworth J, Madankumar R, Saffer C, Das A, et al. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014;370:799-808 pubmed publisher
    ..Its performance in low-risk women is unclear...
  3. Bianchi D, Platt L, Goldberg J, Abuhamad A, Sehnert A, RAVA R. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890-901 pubmed publisher,, NCT01122524. II. ..
  4. Smonskey M, Block A, Deeb G, Chanan Khan A, Bernstein Z, Miller K, et al. Monoallelic and biallelic deletions of 13q14.3 in chronic lymphocytic leukemia: FISH vs miRNA RT-qPCR detection. Am J Clin Pathol. 2012;137:641-6 pubmed publisher
    ..Analyzed retrospectively, miR-15a levels differ among the del(13q) groups. However, only del(13qx2) miR-15a levels are reduced enough to determine the allelic status of an individual sample prospectively by real-time quantitative PCR...
  5. Tsukada K, Imataka G, Suzumura H, Arisaka O. Better prognosis in newborns with trisomy 13 who received intensive treatments: a retrospective study of 16 patients. Cell Biochem Biophys. 2012;63:191-8 pubmed publisher
    ..This study provides useful information concerning genetic counseling, especially from an ethical point of view, before providing intensive management to newborns with trisomy 13...
  6. Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175-84 pubmed publisher
    ..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis...
  7. Liang D, Lv W, Wang H, Xu L, Liu J, Li H, et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn. 2013;33:409-15 pubmed publisher
    ..To determine whether non-invasive prenatal testing by maternal plasma DNA sequencing can uncover all fetal chromosome aneuploidies in one simple sequencing event...
  8. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, et al. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res. 2006;34:e68 pubmed
    ..This technique offers new possibilities for genetic analysis of single cells in general and opens the route towards aneuploidy screening and detection of unbalanced translocations in preimplantation embryos in particular. ..
  9. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, et al. Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet. 2009;52:94-100 pubmed publisher
    ..Our patient collection demonstrates that the 7q11.23 microduplication not only causes language delay, but is also associated with congenital anomalies and a recognizable face. ..

More Information


  1. Fiorentino F, Spizzichino L, Bono S, Biricik A, Kokkali G, Rienzi L, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod. 2011;26:1925-35 pubmed publisher
    ..Array-CGH has the potential to overcome several inherent limitations of FISH-based tests, providing improvements in terms of test performance, automation, sensitivity and reliability. ..
  2. Leung T, Vogel I, Lau T, Chong W, Hyett J, Petersen O, et al. Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol. 2011;38:314-9 pubmed publisher
    ..3% (2/38) among those without. aCGH allows detection of submicroscopic chromosomal abnormalities, the prevalence of which may be increased in fetuses with NT > 3.5 mm and an apparently normal karyotype. ..
  3. Irving C, Richmond S, Wren C, Longster C, Embleton N. Changes in fetal prevalence and outcome for trisomies 13 and 18: a population-based study over 23 years. J Matern Fetal Neonatal Med. 2011;24:137-41 pubmed publisher
    ..Changes in prenatal screening and maternal age have had dramatic effects on the live born prevalence of trisomies 13 and 18. Infant survival remains largely unchanged with the majority dying in the neonatal period. ..
  4. Miller D, Adam M, Aradhya S, Biesecker L, Brothman A, Carter N, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749-64 pubmed publisher
    ..G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages. ..
  5. Manning M, Hudgins L. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med. 2010;12:742-5 pubmed publisher
    ..Thus, a review of the utility and limitations of these techniques and recommendations regarding present and future application in the clinical setting are presented in this study. ..
  6. Kriek M, Knijnenburg J, White S, Rosenberg C, den Dunnen J, van Ommen G, et al. Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGH. Am J Med Genet A. 2007;143A:610-4 pubmed
  7. Ballif B, Hornor S, Jenkins E, Madan Khetarpal S, Surti U, Jackson K, et al. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat Genet. 2007;39:1071-3 pubmed
    ..2-p12.2 constitute a previously undescribed syndrome. ..
  8. Shearer B, Thorland E, Gonzales P, Ketterling R. Evaluation of a commercially available focused aCGH platform for the detection of constitutional chromosome anomalies. Am J Med Genet A. 2007;143A:2357-70 pubmed
    ..Further, this study verifies the importance of extensive validation studies prior to clinical implementation of new clinically available methodologies. ..
  9. Doornbos M, Sikkema Raddatz B, Ruijvenkamp C, Dijkhuizen T, Bijlsma E, Gijsbers A, et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances. Eur J Med Genet. 2009;52:108-15 pubmed publisher
    ..Our results suggest a pathogenic nature for the BP1-BP2 microdeletion and, although there obviously is an incomplete penetrance, they support the existence of a novel microdeletion syndrome in 15q11.2. ..
  10. Wester U, Bondeson M, Edeby C, Anneren G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006;140:1164-71 pubmed
    ..1 and 18p11.21. The children with a breakpoint at 18p11.1 had all a broad face, which was observed in only one of those with a more distal breakpoint, otherwise no genotype-phenotype correlation of the features was observed. ..
  11. Fiorentino F, Caiazzo F, Napolitano S, Spizzichino L, Bono S, Sessa M, et al. Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases. Prenat Diagn. 2011;31:1270-82 pubmed publisher
    ..Although larger studies are needed, our results provide further evidence on the feasibility of introducing aCGH as a first-line diagnostic test in routine prenatal diagnosis practice. ..
  12. Bruns D. Birth history, physical characteristics, and medical conditions in long-term survivors with full trisomy 13. Am J Med Genet A. 2011;155A:2634-40 pubmed publisher
  13. Besson V, Brault V, Duchon A, Togbe D, Bizot J, Quesniaux V, et al. Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses. Hum Mol Genet. 2007;16:2040-52 pubmed
    ..Furthermore, they point out that similar partial Monosomies 21 in human might have eluded the diagnosis due to the very specific defects observed in this murine model...
  14. Hannes F, Sharp A, Mefford H, de Ravel T, Ruivenkamp C, Breuning M, et al. Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009;46:223-32 pubmed publisher
    ..This difference in knowledge regarding the clinical relevance of the deletion and the duplication causes a paradigm shift in (cyto)genetic counselling. ..
  15. Leggett V, Jacobs P, Nation K, Scerif G, Bishop D. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol. 2010;52:119-29 pubmed publisher
    ..To review systematically the neurodevelopmental characteristics of individuals with sex chromosome trisomies (SCTs)...
  16. Szafranski P, Schaaf C, Person R, Gibson I, Xia Z, Mahadevan S, et al. Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?. Hum Mutat. 2010;31:840-50 pubmed publisher
    ..Nevertheless, if they prove to have a pathological effects, their high frequency could make them a common risk factor for many neurobehavioral disorders. ..
  17. Woods C, Cox J, Springell K, Hampshire D, Mohamed M, McKibbin M, et al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78:889-896 pubmed publisher
    ..This has important clinical and research implications. ..
  18. Lakovschek I, Streubel B, Ulm B. Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 2011;155A:2626-33 pubmed publisher
    ..More studies analyzing natural outcome after prenatal diagnosis of these chromosomal abnormalities are needed. Non-termination of these pregnancies remains an option, and specialists advising parents need accurate data for counseling. ..
  19. Sarasua S, Dwivedi A, Boccuto L, Rollins J, Chen C, Rogers R, et al. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet. 2011;48:761-6 pubmed publisher
    ..This genotype-phenotype analysis explains some of the phenotypic variability in the syndrome and identifies new genomic regions with a high likelihood for causing important developmental phenotypes such as speech delay. ..
  20. Sibiude J, Gavard L, Floch Tudal C, Mandelbrot L. Perinatal care and outcome of fetuses with trisomies 13 and 18 following a parental decision not to terminate the pregnancy. Fetal Diagn Ther. 2011;29:233-7 pubmed publisher
    ..Couples should be counseled that the precise outcome of trisomy 13 or 18 is unpredictable, and they should receive multidisciplinary support. ..
  21. Pitukkijronnakorn S, Promsonthi P, Panburana P, Udomsubpayakul U, Chittacharoen A. Fetal loss associated with second trimester amniocentesis. Arch Gynecol Obstet. 2011;284:793-7 pubmed publisher
    ..17 and 0.50%, respectively. The certain factors influencing the risk of fetal loss might be independent of the amniocentesis procedure. ..
  22. Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel Simonetti B, Steinlin M, et al. Contiguous ?16?Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality. Am J Med Genet A. 2011;155A:1964-8 pubmed publisher
  23. Bruns D. Neonatal experiences of newborns with full trisomy 18. Adv Neonatal Care. 2010;10:25-31 pubmed publisher
    ..3 months for survivors, 37.5 months for nonsurvivors) than that described in the literature. Data indicate presence of common presenting physical and medical characteristics and varied medical assistance to newborns with full t18. ..
  24. Yatsenko S, Brundage E, Roney E, Cheung S, Chinault A, Lupski J. Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome. Hum Mol Genet. 2009;18:1924-36 pubmed publisher
  25. Hillman S, Pretlove S, Coomarasamy A, McMullan D, Davison E, Maher E, et al. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2011;37:6-14 pubmed publisher
    ..However, some are copy number imbalances that are not clinically significant. This carries implications for prenatal counseling and maternal anxiety. ..
  26. Battaglia A, Hoyme H, Dallapiccola B, Zackai E, Hudgins L, McDonald McGinn D, et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10 pubmed publisher
  27. Bejjani B, Shaffer L. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn. 2006;8:528-33 pubmed
    ..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. ..
  28. Ahzad H, Ramli S, Loong T, Salahshourifar I, Zilfalil B, Yusoff N. De novo ring chromosome 6 in a child with multiple congenital anomalies. Kobe J Med Sci. 2010;56:E79-84 pubmed
    ..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...
  29. Rio Frio T, Lavoie J, Hamel N, Geyer F, Kushner Y, Novak D, et al. Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. N Engl J Med. 2010;363:2628-37 pubmed publisher
    ..Funded by the Turner Family Cancer Research Fund and others.). ..
  30. Mastenbroek S, Twisk M, van Echten Arends J, Sikkema Raddatz B, Korevaar J, Verhoeve H, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:9-17 pubmed
    ..Current Controlled Trials number, ISRCTN76355836 [].). ..
  31. Lin H, Lin S, Chen Y, Hsu C, Kao H, Chen M, et al. Clinical characteristics and survival of trisomy 13 in a medical center in Taiwan, 1985-2004. Pediatr Int. 2007;49:380-6 pubmed
    ..This study investigated the survival and natural history of trisomy 13 in a series of patients, comparing the management and outcome before and after the implementation of Taiwan's National Health Insurance program (NHI)...
  32. Coppinger J, Alliman S, Lamb A, Torchia B, Bejjani B, Shaffer L. Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray. Prenat Diagn. 2009;29:1156-66 pubmed publisher
  33. Ferrazzani S, Degennaro V, Di Stasio E, Poppa G, Moresi S, Salvi S, et al. Development of a new fetal growth curve from a large sample of Italian population. Minerva Pediatr. 2017;69:245-250 pubmed publisher
    ..A trend towards an increase of birth weight was observed if compared to previous growth curve drawn up more than 30 years ago. ..
  34. Forman E, Hong K, Franasiak J, Scott R. Obstetrical and neonatal outcomes from the BEST Trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates. Am J Obstet Gynecol. 2014;210:157.e1-6 pubmed publisher
    ..Using this approach, eSET can be performed without compromising delivery rates and improving the chance of having a healthy, term singleton delivery after in vitro fertilization. ..
  35. Avătăjitei M, Moscalu M, Martiniuc V, Onofriescu M. [Performance of different methods of estimating risk screening for chromosomal anomalies]. Rev Med Chir Soc Med Nat Iasi. 2012;116:515-22 pubmed
  36. Zhang R, Hao L, Wang L, Chen M, Li W, Li R, et al. Gene expression analysis of induced pluripotent stem cells from aneuploid chromosomal syndromes. BMC Genomics. 2013;14 Suppl 5:S8 pubmed publisher
    ..Functional analysis of differentially expressed genes reveals that the genes most affected in aneuploid individuals are related to central nervous system development and tumorigenesis. ..
  37. Tamura M, Hosoya M, Fujita M, Iida T, Amano T, Maeno A, et al. Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q. Hum Mol Genet. 2013;22:2471-81 pubmed publisher
  38. Ayub S, Gadji M, Krabchi K, Côté S, Gekas J, Maranda B, et al. Three new cases of terminal deletion of the long arm of chromosome 7 and literature review to correlate genotype and phenotype manifestations. Am J Med Genet A. 2016;170A:896-907 pubmed publisher
    ..The occurrence of HPE and sacral malformation together was seen in less than 10% of the reviewed cases in both kinds of deletion. HPE was associated mainly in cases with an unbalanced translocation. ..
  39. Le Pichon J, Yu S, Kibiryeva N, Graf W, Bittel D. Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome. Eur J Hum Genet. 2013;21:1093-9 pubmed publisher
    ..3 homozygous deletion, and thus contributed to the severe developmental encephalopathy of the proband. Furthermore, we show that a potentially important pathway in learning and development is affected by the deletion of CHRNA7. ..
  40. Axt Fliedner R, Enzensberger C, Fass N, Vogel M, Kawecki A, Weichert J, et al. Fetal diagnosis of hypoplastic left heart, associations and outcomes in the current era. Ultraschall Med. 2012;33:E51-E56 pubmed publisher
    ..Mit Fortgang der Schwangerschaft und Ausschluss zusätzlicher Anomalien kann die Beratung angepasst werden. Die vorgestellten Daten können als Grundlage der elterlichen Beratung herangezogen werden. ..
  41. Tsang E, Rupps R, McGillivray B, Eydoux P, Marra M, Arbour L, et al. Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome. Am J Med Genet A. 2012;158A:2606-9 pubmed publisher
    ..Here we provide a detailed clinical report and photographic life history of our previously reported patient. Previous case reports of this new syndrome have not described the prognosis or natural history of these patients. ..
  42. Vialard F, Simoni G, Gomes D, Abourra A, De Toffol S, Bru F, et al. Prenatal BACs-on-Beads™: the prospective experience of five prenatal diagnosis laboratories. Prenat Diagn. 2012;32:329-35 pubmed publisher
  43. Hu H, Hao J, Yao H, Chang Q, Li R, Zhang X, et al. Prenatal diagnosis of de novo partial trisomy 18p and partial monosomy 18q recurrent in a family with fatal aortic coarctation. Gene. 2013;517:132-6 pubmed publisher
    ..To the best of our knowledge, the present chromosomal breakpoint with rearrangement has not been previously described. This chromosome aberration may be responsible for this syndrome. ..
  44. Kulkarni K, Desai S, Grundy P, Sergi C. Infantile myofibromatosis: report on a family with autosomal dominant inheritance and variable penetrance. J Pediatr Surg. 2012;47:2312-5 pubmed publisher
    ..Familial IM is rare and the inheritance pattern of IM is unclear. We report on a unique family with four individuals having IM of varying degrees of severity with autosomal dominant inheritance pattern and variable penetrance...
  45. Fahed A, Gelb B, Seidman J, Seidman C. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013;112:707-20 pubmed publisher
    ..In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD. ..
  46. Evangelidou P, Alexandrou A, Moutafi M, Ioannides M, Antoniou P, Koumbaris G, et al. Implementation of high resolution whole genome array CGH in the prenatal clinical setting: advantages, challenges, and review of the literature. Biomed Res Int. 2013;2013:346762 pubmed publisher
    ..In addition a thorough review of the literature is presented. ..
  47. Maekawa Y, Yoshimura Y, Uchida T, Kim C, Miyazaki R, Ohba E, et al. [Bilateral pulmonary artery banding for complex congenital heart disease in a patient with trisomy 13; report of a case]. Kyobu Geka. 2013;66:585-8 pubmed
    ..We concluded that palliative surgery for the patient contributes to improve the quality of life both the patient and the family. This is the 1st report of bilateral pulmonary artery banding for a patient with 13 trisomy. ..
  48. Papoulidis I, Siomou E, Sotiriadis A, Efstathiou G, Psara A, Sevastopoulou E, et al. Dual testing with QF-PCR and karyotype analysis for prenatal diagnosis of chromosomal abnormalities. Evaluation of 13,500 cases with consideration of using QF-PCR as a stand-alone test according to referral indications. Prenat Diagn. 2012;32:680-5 pubmed publisher
    ..A suggestion would include the offering of a choice to the pregnant women, undergoing prenatal screening, by informing them about different approaches and various complications. ..
  49. Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, et al. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. Eur J Med Genet. 2013;56:475-83 pubmed publisher
    ..We propose that individuals with 5q14.3 deletion syndrome may exhibit neuroendocrine phenotypes through the functional loss of MEF2C in the postnatal hypothalamus. ..
  50. Gong L, Wei L, Huang G, Zhang W, Wang L, Zhu S, et al. Identification of genuine primary pulmonary NK cell lymphoma via clinicopathologic observation and clonality assay. Diagn Pathol. 2013;8:140 pubmed publisher
    ..The virtual slide(s) for this article can be found here: ..
  51. Becker N, Byl A, Friedrich S, Jauch A, Schnitzler P, Egerer G, et al. Hepatitis B virus infection is associated with deletion of chromosome 8p in multiple myeloma. Eur J Haematol. 2013;90:279-85 pubmed publisher
    ..36-5.50, P = 0.0048) and for loss of 13q14 non-significantly increased (OR = 1.40, 95% CL = 0.74-2.65) in anti-HBc positive patients. The results provide further support for a role of HBV infection in the pathogenesis of MM. ..
  52. Aboussair N, Jaouad I, Dequaqui S, Sbiti A, Elkerch F, Yahya B, et al. Cytogenetic analysis of 5572 patients referred for suspected chromosomal abnormalities in Morocco. Genet Test Mol Biomarkers. 2012;16:569-73 pubmed publisher
    ..This comparison will help Moroccan clinicians to determine the priority for requesting a cytogenetic analysis in individual cases. ..
  53. Hannon T, Tennant P, Rankin J, Robson S. Epidemiology, natural history, progression, and postnatal outcome of severe fetal ventriculomegaly. Obstet Gynecol. 2012;120:1345-53 pubmed publisher
    ..To estimate the prevalence, associated anomalies, progression, and clinical outcome in fetuses prenatally diagnosed with severe ventriculomegaly...