Delineation of an isodicentric Y chromosome in a mosaic 45,X/46,X,idic(Y)(qter-p11.3::p11.3-qter) fetus by SRY sequencing, G-banding, fish, sky and study of distribution in different tissues

Journal of the Formosan Medical Association

Volumn 106, Issue 5, 2007, Pages 403-410

  Wu, Hsuan Hsuan ^a   Lee, Tsung Hsien ^b   Chen, Chin Der ^b   Yeh, Kun Tu ^a   Chen, Ming ^a,b  

^a CHANGHUA CHRISTIAN HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

FISH; Isodicentric Y; Mosaicism; SKY; SRY

Indexed keywords

HORMONE;

AMNION FLUID; ARTICLE; CASE REPORT; CHROMOSOME G BAND; CYTOGENETICS; DEVELOPMENT; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE SEQUENCE; GENOTYPE; GONAD; HEART VENTRICLE SEPTUM; HEREDITY; HUMAN; KARYOTYPE 45,X; KARYOTYPE 46,XX; MALE GENITAL SYSTEM; MAMMAL; MARKER CHROMOSOME; PLACENTA VILLUS; SEX CHROMOSOME MOSAICISM; SEX DETERMINATION; SPECTRAL KARYOTYPING; SRY GENE; Y CHROMOSOME;

EID: 34250652063     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60327-2     Document Type: Article

References (25)

1. Surerus E, Huggon IC, Allan LD. Turner's syndrome in fetal life. Ultrasound Obstet Gynecol 2003;22:264-7.
2. Kovaleva NV. Sex-specific chromosome instability in early human development. Am J Med Genet A 2005;136:401-13.
3. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994;53:108-40.
4. Jiménez R, Burgos M. Mammalian sex determination: joining pieces of the genetic puzzle. Bioessays 1998;20:696-9.
5. Nonomura K, Kakizaki H, Fukuzawa N, et al. Monozygotic twins with discordant sexual phenotype due to different ratios of mosaicism of 47, X, idic(Y), idic(Y)/46, X, idic(Y)/45, X. Endocrine J 2002;49:497-501.
6. Morava E, Hermann R, Czakó M, et al. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. Am J Med Genet 2000;91:99-101.
7. Hernando C, Carrera M, Ribas I, et al. Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis. Prenat Diagn 2002;22: 802-5.
8. Marcus-Soekarman D, Hamers G, Mulder ALM, et al. Sonographic genital ambiguity in a fetus due to a mosaic 45,X/ 46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype. Prenat Diagn 2005;25:279-82.
9. Speicher MR, Carter NP. The new cytogenetics: blurring the boundaries with molecular biology. Nat Rev Genet 2005;6: 782-92.
10. Pajkrt E, Weisze B, Firth HV, et al. Fetal cardiac anomalies and genetic syndromes. Prenat Diagn 2004;24:1104-15.
11. Wang BB, Yu LC, Peng W, et al. Prenatal identification of i(Yp) by molecular cytogenetic analysis. Prenat Diagn 1995; 15:1115-9.
12. Quilter CR, Nathwani N, Conway GS, et al. A comparative study between infertile males and patients with Turner syndrome to determine the influence of sex chromosome mosaicism and the breakpoints of structurally abnormal Y chromosomes on phenotypic sex. J Med Genet 2002; 39:e80.
13. Gravholt CH, Juul S, Naeraa RW, et al. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ 1996;312:16-21.
14. Fujimoto A, Boelter WD, Sparkes RS, et al. Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism. Am J Med Genet 1991;41:239-45.
15. Perlman EJ, Stetten G, Tuck-Muller CM, et al. Sexual discordance in monozygotic twins. Am J Med Genet 1990;37: 551-7.
16. Sugarman ID, Crolla JA, Malone PS. Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet 1994;46:313-5.
17. Tuck-Muller CM, Chen H, Martinez JE, et al. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995;96:119-29.
18. Raff R, Schubert R, Schwanitz G, et al. Combination of hypospadias and maldescended testis as cardinal symptoms in gonosomal chromosome aberrations. Eur J Pediatr Surg 2000;10:270-5.
19. Giltay JC, Ausems MG, van Seumeren I, et al. Short stature as the only presenting feature in a patient with an isodicentric (Y)(q11.23) and gonadoblastoma. A clinical and molecular cytogenetic study. Eur J Pediatr 2001;160: 154-8.
20. Godoy-Assumpcão JG, Hackel C, Marques-de-Faria AP, et al. Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient. Am J Med Genet 2000;91:95-8.
21. Tapale E, Autio L. Turner's syndrome with ventricular septal defect (Roger's disease): report of a case. Ann Med Interne Fenn 1954;43:264-9.
22. Weil D, Wang I, Dietrich A, et al. High homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness. Nat Genet 1994; 7:414-9.
23. Schibel K, Winkelmann M, Mertz A, et al. Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologus, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females. Hum Mol Genet 1997; 6:1985-9.
24. Delbridge ML, Graves JAM. Mammalian Y chromosome evolution and the male-specific functions of the Y chromosome-born genes. Rev Reprod 1999;4:101-9.
25. Repping S, van Daalen SKM, Brown LG, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 2006;38:463-7.