45,X/46,X,idic(Yq) mosaicism: Clinical, cytogenetic,and molecular studies in four individuals

American Journal of Medical Genetics

Volumn 78, Issue 5, 1998, Pages 424-428

  Teraoka, Michio ^a   Narahara, Koji ^a   Yokoyama, Yuji ^a   Tsuji, Kazushiro ^a   Kikkawa, Kiyoshi ^a   Ito, Satoko ^a   Koyama, Kiyoko ^a   Seino, Yoshiki ^a  

^a OKAYAMA UNIVERSITY MEDICAL SCHOOL   (Japan)

Author keywords

FISH; Idic(Yq); Mosaicism; PABY; Sex differentiation; SRY; ZFY

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME YQ; CLINICAL FEATURE; CONTROLLED STUDY; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; KARYOTYPE 45,X; KARYOTYPE 46,XY; LYMPHOCYTE; MALE; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SEX DETERMINATION; SKIN FIBROBLAST; TURNER SYNDROME;

ADOLESCENT; ADULT; CELLS, CULTURED; DNA-BINDING PROTEINS; FEMALE; GENE DOSAGE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; MALE; MOSAICISM; NUCLEAR PROTEINS; PHENOTYPE; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SEX CHROMOSOME ABERRATIONS; SEX DETERMINATION (GENETICS); SEX-DETERMINING REGION Y PROTEIN; SISTER CHROMATID EXCHANGE; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0031877590     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: None     Document Type: Article

References (15)

1. Ataya KM, Dudin G, Mroueh A (1983): Dicentric i(Yq) chromosome and azoospermia. Am J Med Genet 14:583-590.
2. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M (1990): Genetic evidence equating SRY and the testis-determining factor. Nature 348:448-450.
3. Callen DF, Baker E, Eyre HJ, Chernos JE, Bell JA, Sutherland GR (1990): Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann Genet 33:219-221.
4. Chong SS, Kristjansson K, Cota J, Handyside AH, Hughes MR (1993): Preimplantation prevention of X-linked disease: reliable and rapid sex determination of single human cells by restriction analysis of simultaneously amplified ZFX and ZFY sequences. Hum Mol Genet 8:1187-1191.
5. Daniel A (1985): Y isochromosomes and rings. In Sandbag AA (ed.): The Y Chromosome, Part B: Clinical Aspects of Y Chromosome Abnormalities.' New York: Alan R Liss, Inc., pp 105-135.
6. Davis RM (1981): Localization of male determining factors in man: a thorough review of structural anomalies of the Y chromosome. J Med Genet 18:161-195.
7. Ellis N, Taylor A, Bengstsson BO, Kidd J, Rogers J, Goodfellow PN (1990): Population structure of the human pseudoautosomal boundary. Nature 344:663-665.
8. Hsu LYF (1994): Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140.
9. Jager RJ, Anvret M, Hall K, Scherer G (1990): A human XY female with a frame shift mutation in the candidate testis-determining gene SRY. Nature 348:452-454.
10. Koopman P, Gubbay J., Vivian N, Goodfellow P, Lovell-Badge R (1991): Male development of chromosomally female mice transgenic for Sry. Nature 351:117-121.
11. Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, de la Chapelle A, Silver S, Page D (1995): Diverse spermatogenic defects in humans caused by chromosome deletions encompassing a novel RNA-binding protein gene. Nature Genet 10:383-393.
12. Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G (1995): Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. Am J Hum Genet 56:862-869.
13. Shankmann S, Spurdle AB, Morris D, Rosendorff J, Marques I, Bernstein R, Ramsay M (1995): Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies. Am J Med Genet 55:269-275.
14. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith JM, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN (1990): A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346:240-244.
15. Tuck-Muller CM (1995): Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 96: 119-129.