Sex chromosomes and sex chromosome abnormalities

Clinics in Laboratory Medicine

Volumn 31, Issue 4, 2011, Pages 463-479

  Li, Xu ^a  

^a KAISER PERMANENTE   (United States)

Author keywords

Mosaicism; Sex chromosome; Sex chromosome abnormalities; X inactivation; X linked mental retardation

Indexed keywords

CHIMERA; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; DAZ GENE; GENE; GENE DELETION; GENE MUTATION; HERMAPHRODITISM; HUMAN; KARYOTYPE; KLINEFELTER SYNDROME; MOSAICISM; NUMERICAL CHROMOSOME ABERRATION; PAR1 GENE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; REVIEW; SEX CHROMOSOME ABERRATION; SRY GENE; TURNER SYNDROME; X CHROMOSOME; X CHROMOSOME INACTIVATION; Y CHROMOSOME;

FEMALE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOSAICISM; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOMES; X CHROMOSOME INACTIVATION;

EID: 82355164282     PISSN: 02722712     EISSN: 15579832     Source Type: Journal    
DOI: 10.1016/j.cll.2011.08.013     Document Type: Review

References (57)

1. Human Genome Build 19, UCSC, Ensembl release 61-Feb 2011 Accessed April 15, 2011. http://may2009.archive.ensembl.org/Homo_sapiens/Location/Chromosome?r=Y.
2. Skaletsky H., Kuroda-Kawaguchi T., Minx P.J., et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003, 423:825-837.
3. Rozen S., Skaletsky H., Marszalek J.D., et al. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 2003, 423:873-876.
4. Carrell L., Willard H.F. X-inactivation profile reveals extensive variability in X-linked gene expression in females. Nature 2005, 17:400-404.
5. Payer B., Lee J.T. X chromosome dosage compensation: how mammals keep the balance. Annu Rev Genet 2008, 42:733-772.
6. Linden M.G., Bender B.G., Robinson A. Sex chromosome tetrasomy and pentasomy. Pediatrics 1995, 96:672-682.
7. Tartaglia N., Ayari N., Howell S., et al. Behavioral phenotype of sex chromosome aneuploidies: 48,XXYY, 48,XXXY, and 49,XXXXY. Acta Paediatr 2011, 10:1651-2227.
8. Shanske A., Sachmechi I., Patel D.K., et al. An adult with 49,XYYYY karyotype: case report and endocrine studies. Am J Med Genet 1998, 80(2):103-106.
9. Leggett V., Jacobs P., Nation K., et al. Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic review. Dev Med Child Neurol 2010, 52:119-129.
10. Maarten O. Triple X syndrome: a review of the literature. Eur J Hum Genet 2010, 18:265-271.
11. Tartaglia N.R., Howell S., Sutherland A., et al. Review of trisomy X (47,XXX). Orphanet J Rare Dis 2010, 11. 5:8.
12. Rooman R.P., Van Driessche K., Du Caju M.V. Growth and ovarian function in girls with 48,XXXX karyotype--patient report and review of the literature. J Pediatr Endocrinol Metab 2002, 15(7):1051-1055.
13. Kassai R., Hamada I., Furuta H., et al. Penta X syndrome: a case report with review of the literature. Am J Med Genet 1991, 40:51-56.
14. Cho Y.G., Kim D.S., Lee H.S., et al. A case of 49,XXXXX in which the extra X chromosomes were maternal in origin. J Clin Pathol 2004, 57:1004-1006.
15. Gardner R.J.M., Sutherland G.R. Chromosome abnormalities and genetic counseling 2004, Oxford University Press, New York. 3rd edition.
16. Tartaglia N., Davis S., Hench A., et al. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A 2008, 15:1509-1522.
17. Guttenbach M., Koschorz B., Bernthaler U., et al. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet 1995, 57:1143-1150.
18. Russell L.M., Strike P., Browne C.E., et al. X chromosome loss and ageing. Cytogenet Genome Res 2007, 116:181-185.
19. Bukvic N., Gentile M., Susca F., et al. Sex chromosome loss, micronuclei, sister chromatid exchange and aging: a study including 16 centenarians. Mutat Res 2001, 498(1-2):159-167. 15.
20. Velissariou V., Christopoulou S., Karadimas C., et al. Rare XXY/XX mosaicism in a phenotypic male with Klinefelter syndrome: case report. Eur J Med Genet 2006, 49(4):331-337.
21. Mark H.F., Bai H., Sotomayor E., et al. A variant Klinefelter syndrome patient with an XXY/XX/XY karyotype studied by GTG-banding and fluorescence in situ hybridization. Exp Mol Pathol 1999, 67(1):50-56.
22. Hsu L.Y.F. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994, 53:108-140.
23. Pettenati M.J., Wheeler M., Bartlett D.J., et al. 45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases. Am J Med Genet 1991, 39:42-47.
24. Al-Awadi S.A., Teebi A.S., Krishna Murthy D.S., et al. Klinefelter's syndrome, mosaic 46,XX/46,XY/47,XXY/48,XXXY/48,XXYY: a case report. Ann Genet 1986, 29(2):119-121.
25. Zamora L., Espinet B., Salido M., et al. Report of 46,XX/46,XY/47,XXY/48,XXYY mosaicism in an adult phenotypic male. Am J Med Genet 2002, 111(2):215-217.
26. Homer L., Le Martelot M.T., Morel F., et al. 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit. Eur J Endocrinol 2010, 162(3):617-623.
27. Krausz C., Forti G., Mcelreavey K. The Y chromosome and male fertility and infertility. Int J Androl 2003, 26:70-75.
28. Tyson C., Dawson A.J., Bal S. Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability. Am J Med Genet A 2009, 149A(3):490-495.
29. Lin Y.H., Lin Y.M., Lin Y.H., et al. Ring (Y) in two azoospermic men. Am J Med Genet A 2004, 128A(2):209-213.
30. Xu J., Siu V.M. Is there a correlation between the proportion of cells with isodicentric Yp at amniocentesis and phenotypic sex?. Prenat Diagn 2010, 30(9):839-844.
31. Shinawi M., Cain M.P., Vanderbrink B.A., et al. Mixed gonadal dysgenesis in a child with isodicentric Y chromosome: does the relative proportion of the 45,X line really matter?. Am J Med Genet A 2010, 152A(7):1832-1837.
32. Dalton P., Coppin B., James R., et al. Three patients with a 45,X/46,X,psu dic(Xp) karyotype. J Med Genet 1998, 35(6):519-524.
33. Butler M.G., Sanger W.G., Walzak M.P. A unique Y/Y translocation in an infertile male. Cytogenet Cell Genet 1981, 31(3):175-177.
34. Parcheta B., Skawiński W., Wiśniewski L. DNA content and the size of Y chromosome in a patient with mixed gonadal dysgenesis and 45,X/46,Xt(Y:Y) (pter leads to q12::q12 leads to q11) karyotype]. Ginekol Pol 1982, 53(12):889-895. [In Polish].
35. Lonardo F., Parenti G., Luquetti D.V., et al. Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. Eur J Med Genet 2007, 50(4):301-308.
36. Melichar V.O., Guth S., Hellebrand H., et al. A male infant with a 9.6 Mb terminal Xp deletion including the OA1 locus: limit of viability of Xp deletions in males. Am J Med Genet A 2007, 143(2):135-141.
37. van Steensel M.A., Vreeburg M., Engelen J., et al. Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. Am J Med Genet A 2008, 146A(22):2944-2949.
38. Stanczak C.M., Chen Z., Zhang Y.H., et al. Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays. Hum Mutat 2007, 28(3):235-242.
39. Parvari R., Mumm S., Galil A., et al. Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. Am J Med Genet 1999, 83(4):302-307.
40. Wolff D.J., Gustashaw K.M., Zurcher V., et al. Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern. Hum Genet 1997, 100(2):256-261.
41. Ricks C.B., Masand R., Fang P., et al. Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25. Am J Med Genet A 2010, 152A(2):453-458.
42. Jezela-Stanek A., Ciara E., Juszczak M., et al. Cryptic x; autosome translocation in a boy-delineation of the phenotype. Pediatr Neurol 2011, 44(3):221-224.
43. Fusco F., Paciolla M., Chen E., et al. Genetic and molecular analysis of a new unbalanced X;18 rearrangement: localization of the diminished ovarian reserve disease locus in the distal Xq POF1 region. Hum Reprod 2011, [Epub ahead of print].
44. Cheng S.F., Rauen K.A., Pinkel D., et al. Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review. Am J Med Genet A 2005, 135(3):308-313.
45. Vaglio A., Greif G., Bernal M., et al. Prenatal and postnatal characterization of a de novo Xq22.1 terminal deletion. Genet Test 2006, 10(4):272-276.
46. Kokalj-Vokac N., Marcun-Varda N., Zagorac A., et al. Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion. Eur J Pediatr 2004, 163(11):658-663.
47. Uehara S., Hanew K., Harada N., et al. Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature. Am J Med Genet 2001, 99(3):196-199.
48. Bukvic N., Carri V.D., Di Cosola M.L., et al. Familial X;Y translocation with distinct phenotypic consequences: characterization using FISH and array CGH. Am J Med Genet A 2010, 152A(7):1730-1734.
49. Ashton F., O'Connor R., Love J.M., et al. Molecular characterisation of a der(Y)t(Xp;Yp) with Xp functional disomy and sex reversal. Genet Mol Res 2010, 9(3):1815-1823.
50. Wolff D.J., Van Dyke D.L., Powell C.M., et al. Working Group of the ACMG Laboratory Quality Assurance Committee. Laboratory guideline for Turner syndrome. Genet Med 2010, 12(1):52-55.
51. Stankiewicz P., Hélias-Rodzewicz Z., Jakubów-Durska K. Cytogenetic and molecular characterization of two isodicentric Y chromosomes. Am J Med Genet 2001, 101(1):20-25.
52. Tuck-Muller C.M., Chen H., Martínez J.E. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995, 96(1):119-129.
53. Tsuchiya K., Reijo R., Page D.C., et al. Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am J Hum Genet 1995, 57:1400-1407.
54. Modan-Moses D., Litmanovitch T., Rienstein S., et al. True hermaphroditism with ambiguous genitalia due to a complicated mosaic karyotype: clinical features, cytogenetic findings, and literature review. Am J Med Genet A 2003, 116A(3):300-303.
55. Chen C.P., Chern S.R., Sheu J.C., et al. Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera. Prenat Diagn 2005, 25(6):502-506.
56. Jorgensen P.B., Kjartansdóttir K.R., Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril 2010, 94(1):105-113.
57. Ambry genetics Accessed April 30, 2011. http://www.ambrygen.com/X-Linked-Intellectual-Disabilities.html.