sex chromosome disorders


Summary: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).

Top Publications

  1. Cirigliano V, Ejarque M, Fuster C, Adinolfi M. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod. 2002;8:1042-5 pubmed
  2. Armstrong L, McGowan Jordan J, Brierley K, Allanson J. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet A. 2003;116A:71-6 pubmed
    ..We suggest that functional disomy of the duplicated X material, due to local escape from inactivation, may be responsible for the phenotype in the affected females...
  3. Lachlan K, Collinson M, Sandford R, van Zyl B, Jacobs P, Thomas N. Functional disomy resulting from duplications of distal Xq in four unrelated patients. Hum Genet. 2004;115:399-408 pubmed
    ..We have also narrowed the putative critical interval for X-linked spina bifida...
  4. Shaw S, Chueh H, Chang S, Cheng P, Hsieh T, Soong Y. Parental decisions regarding prenatally detected fetal sex chromosomal abnormality and the impact of genetic counselling: an analysis of 57 cases in Taiwan. Aust N Z J Obstet Gynaecol. 2008;48:155-9 pubmed publisher
    ..Genetic counselling by well-trained specialists is valuable, and the trend towards fewer terminations at our centre suggests improved parental knowledge of pathology associated with SCA. ..
  5. Tseng J, Chou M, Lo F, Lai H, Chen M, Ho E. Detection of chromosome aberrations in the second trimester using genetic amniocentesis: experience during 1995-2004. Taiwan J Obstet Gynecol. 2006;45:39-41 pubmed
    ..44%) included balanced translocation, unbalanced abnormality, inversion, and marker chromosome. For daily practice, our data could offer a database for proper genetic counseling, such as termination issues and future pregnancies. ..
  6. Suri M. The phenotypic spectrum of ARX mutations. Dev Med Child Neurol. 2005;47:133-7 pubmed
    ..Familiarity with the phenotypic spectrum of ARX mutations is helpful in determining when to request ARX mutation analysis. ..
  7. Brugh V, Maduro M, Lamb D. Genetic disorders and infertility. Urol Clin North Am. 2003;30:143-52 pubmed
    ..An understanding of the genetic basis of male infertility allows for the appropriate counseling of patients about treatment options and risks to their potential offspring. ..
  8. Bryant D, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, et al. Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol. 2012;54:1149-56 pubmed publisher
    ..To assess global and regional brain matter variations associated with XYY syndrome by comparison with Klinefelter syndrome and typical development...
  9. Cavkaytar S, Batioglu S, Gunel M, Ceylaner S, Karaer A. Genetic evaluation of severe male factor infertility in Turkey: a cross-sectional study. Hum Fertil (Camb). 2012;15:100-6 pubmed publisher
    ..To determine the frequency, types of chromosomal abnormalities and Y chromosome microdeletions in patients with severe male factor infertility, and the association between clinical background and genetic abnormality...

More Information


  1. Monastirli A, Stephanou G, Georgiou S, Andrianopoulos C, Pasmatzi E, Chroni E, et al. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47,XYY/45,X/46,XY mosaicism. Am J Med Sci. 2005;329:208-10 pubmed
  2. de Die Smulders C, Land J, Dreesen J, Coonen E, Evers J, Geraedts J. [Results from 10 years of preimplantation-genetic diagnostics in The Netherlands]. Ned Tijdschr Geneeskd. 2004;148:2491-6 pubmed
  3. Bahi Buisson N, Chelly J, Des Portes V. [Update on the genetics of X-linked mental retardation]. Rev Neurol (Paris). 2006;162:952-63 pubmed
    ..Non syndromic XLMR proteins include 5 distinct classes: transmembrane receptors, small GTPases effectors or regulators, enzymes and translational regulators. ..
  4. El Hattab A, Fang P, Jin W, Hughes J, Gibson J, Patel G, et al. Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011;48:840-50 pubmed publisher
    ..Advancements in array CGH technology have enabled the identification of such small, clinically relevant copy-number variants. ..
  5. Uslu R, Oztop D, Ozcan O, Yilmaz S, Berberoglu M, Adiyaman P, et al. Factors contributing to sex assignment and reassignment decisions in Turkish children with 46,XY disorders of sex development. J Pediatr Endocrinol Metab. 2007;20:1001-15 pubmed
    ..Prepubertal gender conversion is possible, which implies the importance of follow-up during childhood. ..
  6. Patsalis P, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, et al. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A. 2005;135:145-9 pubmed
    ..Furthermore, this study shows a possible association of these deletions with Y-chromosome instability...
  7. Bellovits O, Rusz A, Romics I, Csonka E, Hadlaczky G, Bujdosó G, et al. [Chromosomal disorders in the background of azoospermia]. Orv Hetil. 2006;147:531-5 pubmed
    ..The results provide a chance for patients to be spared from long-drawn moreover psychological burdening examinations. In addition the costs of different clinical intervention could be saved too. ..
  8. Klein O, Backstrand K, Cotter P, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005;14:93-6 pubmed
    ..Cytogenetic analysis showed the karyotype 46,XX,der(6)t(Y;6)(p11.2;p23).ish der(6)(SRY+,6pTEL48-). The effects of partial monosomy 6p are discussed and compared to other patients with interstitial and terminal 6p deletions. ..
  9. Calvano S, de Cillis G, Croce A, Perla G, Notarangelo A, Zelante L. A complex mosaicism 45,X/46,X,del(Xq)/46,X,idic(Xq) in a patient with secondary amenorrhea. Ann Genet. 2002;45:137-40 pubmed
    ..No cell contained both abnormal X chromosomes. This observation would suggest a possible mechanism underlying the formation of isodicentric chromosomes. ..
  10. Leclerc Mercier S, Pedeutour F, Fabas T, Glorion C, Brousse N, Fraitag S. Plexiform fibrohistiocytic tumor with molecular and cytogenetic analysis. Pediatr Dermatol. 2011;28:26-9 pubmed publisher
    ..Because of lack of specific chromosomal hallmarks, a molecular diagnosis of plexiform fibrohistiocytic tumor with the currently available tools is not reliable. ..
  11. Arnold A. Mouse models for evaluating sex chromosome effects that cause sex differences in non-gonadal tissues. J Neuroendocrinol. 2009;21:377-86 pubmed publisher
    ..Moreover, mouse models are available to determine whether the sex chromosome effects are caused by X or Y genes...
  12. Dhakar M, Ilyas M, Jeong J, Behen M, Chugani H. Frontal Aslant Tract Abnormality on Diffusion Tensor Imaging in an Aphasic Patient With 49, XXXXY Syndrome. Pediatr Neurol. 2016;55:64-7 pubmed publisher
    ..A poorly developed frontal aslant tract may underlie the expressive language deficits and provide some insight into the role of X chromosome in modulating the development of language tracts. ..
  13. Wassink T, Piven J, Patil S. Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatr Genet. 2001;11:57-63 pubmed
    ..These data support the contribution of chromosomal abnormalities to a small but significant number of cases of autism, and highlight the involvement of chromosome 15 and the sex chromosomes. ..
  14. Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet. 2002;11:981-91 pubmed
    ..The absence of detectable brain malformations in patients suggests that ARX may have an essential role, in mature neurons, required for the development of cognitive abilities. ..
  15. Hall H, Hawley R. The hows and Ys of genome integrity. Cell. 2009;138:830-2 pubmed publisher
  16. Hirota T, Ohta H, Powell B, Mahadevaiah S, Ojarikre O, Saitou M, et al. Fertile offspring from sterile sex chromosome trisomic mice. Science. 2017;357:932-935 pubmed publisher
    ..It can also create euploid iPSCs from human trisomic patient fibroblasts. The findings have relevance to overcoming infertility and other trisomic phenotypes. ..
  17. Furrow A, Theisen A, Velsher L, Bawle E, Sastry S, Mendelsohn N, et al. Duplication of the STS region in males is a benign copy-number variant. Am J Med Genet A. 2011;155A:1972-5 pubmed publisher
    ..Based on the frequency with which duplications have been identified in clinically normal and abnormal individuals, we suggest a gain of STS in males is a population variant and unlikely to be clinically significant. ..
  18. RodrIguez Criado G, Galán Gómez E, Tizzano E, Garcia Rodriguez E, Gomez de Terreros I. First report of a patient with a mixoploidy 47,XXX/94,XXXXXX. Genet Couns. 2007;18:99-104 pubmed
    ..The 94,XXXXXX cell line was likely the result of a cytokinesis error. To our knowledge, this is the first documented patient with a trisomy and a hypertetraploidy. ..
  19. Bashamboo A, Rahman M, Prasad A, Chandy S, Ahmad J, Ali S. Fate of SRY, PABY, DYS1, DYZ3 and DYZ1 loci in Indian patients harbouring sex chromosomal anomalies. Mol Hum Reprod. 2005;11:117-27 pubmed
    ..This would augment genetic counselling to the affected couples. Prospects of this approach in the overall management of clinical cases with sex chromosome-related anomalies are discussed...
  20. Su L, Biswas A, Ho S, Ponnusamy S, Kothandaraman N, Chia D, et al. Rapid prenatal diagnosis by AmnioPCR and AmnioFISH: routine testing for Down's syndrome (trisomy 21) and sex chromosome trisomies, but targeted testing for Edward's (trisomy 18) and Patau's syndromes (trisomy 13). Ann Acad Med Singapore. 2004;33:S53-4 pubmed
  21. Petrova N, Yakutenko I, Alexeevski A, Verbovoy V, Razin S, Iarovaia O. Changes in chromosome positioning may contribute to the development of diseases related to X-chromosome aneuploidy. J Cell Physiol. 2007;213:278-83 pubmed
  22. Benito Sanz S, Aza Carmona M, Rodriguez Estevez A, Rica Etxebarria I, Gracia R, Campos Barros A, et al. Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature. Eur J Hum Genet. 2012;20:125-7 pubmed publisher
    ..The loss of these elements may result in SHOX haploinsufficiency because of decreased SHOX transcription. Therefore, this upstream region should be included in the routine analysis of PAR1 in patients with LWD, LMD and ISS. ..
  23. Sasidhar M, Itoh N, Gold S, Lawson G, Voskuhl R. The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY. Ann Rheum Dis. 2012;71:1418-22 pubmed publisher
    ..These data show that the XX sex chromosome complement, compared with XY(-), is associated with accelerated spontaneous lupus. ..
  24. Rota A, Cucuzza A, Iussich S, Delorenzi L, Parma P. The case of an Sry-negative XX male Pug with an inguinal gonad. Reprod Domest Anim. 2010;45:743-5 pubmed publisher
    ..This case is unusual because the dog showed an inguinal testis, implying a partial activity of the mechanisms leading to abdominal testis translocation along a gubernaculum and transinguinal migration. ..
  25. Brender J, Zhan F, Langlois P, Suarez L, Scheuerle A. Residential proximity to waste sites and industrial facilities and chromosomal anomalies in offspring. Int J Hyg Environ Health. 2008;211:50-8 pubmed
    ..8, 95% CI 1.2-42.8). Study findings suggest some relation between residential proximity to industries with emissions of solvents or heavy metals and chromosomal anomalies in births to older mothers. ..
  26. Shaffer B, Caughey A, Norton M. Variation in the decision to terminate pregnancy in the setting of fetal aneuploidy. Prenat Diagn. 2006;26:667-71 pubmed
    ..To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice...
  27. Klempíř J, Roth J, Zarubova K, Písacka M, Spacková N, Tilley L. The McLeod syndrome without acanthocytes. Parkinsonism Relat Disord. 2008;14:364-6 pubmed
    ..After 7 years he suddenly developed delirium followed by severe hypoglycaemia, hyperthermia, rhabdomyolysis, hepatic and renal failure. Malignant arrhythmia caused death. ..
  28. Song N, Yin C, Zhang W, Zhuo Z, Ding G, Zhang J, et al. AZF gene expression analysis in peripheral leukocytes and testicular cells from idiopathic infertility. Arch Androl. 2007;53:317-24 pubmed
  29. Liehr T, Mrasek K, Hinreiner S, Reich D, Ewers E, Bartels I, et al. Small supernumerary marker chromosomes (sSMC) in patients with a 45,X/46,X,+mar karyotype - 17 new cases and a review of the literature. Sex Dev. 2007;1:353-62 pubmed publisher
    ..Thus, more cases with detailed (molecular) cytogenetic marker chromosome characterization are needed to provide information on formation and effects of an sSMC(T). ..
  30. Okuyama S, Wakui H, Kaneko J, Masai R, Ohtani H, Komatsuda A, et al. 49, XXXXY syndrome with unilateral renal aplasia, proteinuria, and venous thromboembolism. Intern Med. 2004;43:1186-90 pubmed
    ..This is the first case of the 49, XXXXY syndrome complicated with unilateral renal aplasia, proteinuria, and venous thromboembolism. ..
  31. Wikiera B, Głab E, Slezak R, Wójcik E, Noczynska A. Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report. Pediatr Endocrinol Diabetes Metab. 2009;15:125-7 pubmed
    ..Subclinical hypothyroidism and severe scoliosis could further disturb his development. ..
  32. Biroli E, Ghimenti C, Ricci I, Pirola B, Liverani M, Perona A, et al. [Sex chromosome abnormality: report of three clinical cases of X pentasomy]. Pathologica. 2003;95:444-6 pubmed
    ..The salient phenotypic characteristics of these cases (heart defects, growth deficiency, craniofacial and hand abnormalities) are compared to the clinico-pathological data described in literature. ..
  33. Karaer K, Ergun M, Weise A, Ewers E, Liehr T, Kosyakova N, et al. The case of an infertile male with an uncommon reciprocal X-autosomal translocation: how does this affect male fertility?. Genet Couns. 2010;21:397-404 pubmed
    ..As a conclusion, cytogenetic evaluation of infertile subjects with azoospermia should be considered in the first place before in vitro fertilisation procedures are planned. ..
  34. Corsello S, Di Donna V, Senes P, Luotto V, Ricciato M, Paragliola R, et al. Biological aspects of gender disorders. Minerva Endocrinol. 2011;36:325-39 pubmed
    ..This "organicistic neurohormal theory" might find support in the study of particular situations in which the human fetus is exposed to an abnormal hormonal environment in utero. ..
  35. Wang X, Sutton V, Eble T, Lewis R, Gunaratne P, Patel A, et al. A genome-wide screen for copy number alterations in Aicardi syndrome. Am J Med Genet A. 2009;149A:2113-21 pubmed publisher
    ..We conclude that, in this study population of 38 subjects, Aicardi syndrome is not caused by CNVs detectable with the high-resolution array platform that was used. ..
  36. Plaseski T, Noveski P, Trivodalieva S, Efremov G, Plaseska Karanfilska D. Quantitative fluorescent-PCR detection of sex chromosome aneuploidies and AZF deletions/duplications. Genet Test. 2008;12:595-605 pubmed publisher
    ..We conclude that multiplex QF-PCR is a rapid, simple, reliable, and inexpensive method that can be used as a first-step genetic analysis in infertile/subfertile patients...
  37. Adamczak R, Szymański W, Pasińska M, Haus O. [Clinical and cytogenetic evaluation of patients with disorders of somato-sexual development]. Ginekol Pol. 2003;74:925-9 pubmed
    ..28 women with disorders of sexual development were clinically and cytogenetically analyzed...
  38. Neas K, Yip M, James C, Kirk E. Patient with a non-mosaic isodicentric Yp and mild developmental delay. Am J Med Genet A. 2005;137:223-4 pubmed
  39. Mokánszki A, Ujfalusi A, Balogh E, Molnàr Z, Sapy T, Jakab A, et al. [Citogenetic and molecular genetic studies in infertility in eastern Hungary]. Orv Hetil. 2013;154:52-61 pubmed publisher
    ..In a male patient with 46,XY,t(3;6)(q21;q23) karyotype, 53.2% of spem carried unbalanced chromosome assortment. Knowledge of abnormalities may help in genetic counseling and choosing the most effective reproduction technique. ..
  40. Tachdjian G, Frydman N, Morichon Delvallez N, Dû A, Fanchin R, Vekemans M, et al. Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review. Hum Reprod. 2003;18:271-5 pubmed
  41. Hagenäs L. [Normal and deviating puberty in boys]. Tidsskr Nor Laegeforen. 2008;128:1284-8 pubmed
    ..It is therefore essential to follow gonad function closely in these patients. In conclusion, each doctor treating children should be able to evaluate the degree of puberty development and when needed request adequate laboratory tests. ..
  42. Alias A. A role for 5alpha-reductase activity in the development of male homosexuality?. Ann N Y Acad Sci. 2004;1032:237-44 pubmed
    ..Furthermore, in an animal model, "cognitive-enhancing effects" of "5alpha-reduced androgen [metabolites]" were recently demonstrated. ..
  43. Rogers R, Stevenson R, Simensen R, Holden K, Schwartz C. Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008;50:104-11 pubmed publisher
    ..This article provides an overview of MR and its association with hypotonia, with a review of five 'new' XLMR-hypotonia syndromes. ..
  44. Boyd P, Loane M, Garne E, Khoshnood B, Dolk H. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Eur J Hum Genet. 2011;19:231-4 pubmed publisher
    ..There is a wide variation between European countries in prevalence, prenatal detection and TOPFA proportions, related to differences in screening policies as well as organizational and cultural factors. ..
  45. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo D, et al. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004;23:147-59 pubmed
  46. Zhao L, Jiang H, Hong K, Huang J, Tang W, Mao J, et al. [Successful microdissection testicular sperm extraction in patients with nonmosaic Klinefelter syndrome: three cases report]. Beijing Da Xue Xue Bao Yi Xue Ban. 2012;44:547-50 pubmed
    ..To discuss the method for patients with nonmosaic Klinefelter syndrome (KS) to father children...
  47. Grams S, Argiropoulos B, Lines M, Chakraborty P, McGowan Jordan J, Geraghty M, et al. Genotype-phenotype characterization in 13 individuals with chromosome Xp11.22 duplications. Am J Med Genet A. 2016;170A:967-77 pubmed publisher
    ..In addition, expressive language delay, failure to thrive, motor delay, and 5th finger clinodactyly were also frequently observed in patients with the proximal duplication. ..
  48. Vassiliou G, Campbell P, Li J, Roberts I, Swanton S, Huntly B, et al. An acquired translocation in JAK2 Val617Phe-negative essential thrombocythemia associated with autosomal spread of X-inactivation. Haematologica. 2006;91:1100-4 pubmed
    ..This is the first documented example of autosomal gene silencing adjacent to an X-autosome breakpoint in human malignancy and such a mechanism may underlie the pathogenesis of related disorders with translocations involving Xq13. ..
  49. Grosso S, Farnetani M, Di Bartolo R, Berardi R, Pucci L, Mostardini R, et al. Electroencephalographic and epileptic patterns in X chromosome anomalies. J Clin Neurophysiol. 2004;21:249-53 pubmed
    ..Although further studies are needed to validate these observations, they clearly confirm the strict relationship between X chromosome anomalies and epilepsy...
  50. Guo Q, Xiao L, Zhou Y. Rapid diagnosis of aneuploidy by high-resolution melting analysis of segmental duplications. Clin Chem. 2012;58:1019-25 pubmed publisher
    ..The assay has sufficient throughput to meet the demands of large-scale testing, such as population-based postnatal screening, and is thus suitable for routine use. ..
  51. Cordeiro L, Tartaglia N, Roeltgen D, Ross J. Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes. Res Dev Disabil. 2012;33:1254-63 pubmed publisher
    ..Results describe the social skills in males with SCA, and suggest that an additional Y chromosome may contribute to increased risk of autistic behaviors...
  52. Bardsley M, Kowal K, Levy C, Gosek A, Ayari N, Tartaglia N, et al. 47,XYY syndrome: clinical phenotype and timing of ascertainment. J Pediatr. 2013;163:1085-94 pubmed publisher
    ..To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult...
  53. Kucheria K, Jobanputra V, Talwar R, Ahmad M, Dada R, Sivakumaran T. Human molecular cytogenetics: diagnosis, prognosis, and disease management. Teratog Carcinog Mutagen. 2003;Suppl 1:225-33 pubmed
    ..To conclude, FISH adds to the diagnostic utility of routine cytogenetics and its use on interphase nuclei overcomes the difficulty of conventional cytogenetics, thereby reducing the time between sampling and diagnosis to 24 hr. ..