Discordant phenotypes and 45,X/46,X,idic(Y)

Journal of Medical Genetics

Volumn 35, Issue 10, 1998, Pages 862-864

  Kelly, Thaddeus E ^a,c   Franko, James B ^b   Rogol, Alan ^a   Golden, Wendy L ^a  

^a UNIVERSITY OF VIRGINIA   (United States)

^b CARILION CLINIC   (United States)

^c UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

Author keywords

Dicentric Y chromosome; Mixed gonadal dysgenesis; Testis determining factor; Turner syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME MOSAICISM; FEMALE; GONADAL DYSGENESIS; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SEX CHROMOSOME; TURNER SYNDROME;

EID: 0031657526     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.10.862     Document Type: Article

References (10)

1. Shashi V, Golden WL, Allinson PS, Kelly TE. Molecular analysis of recombination in a family with a large pericentric X-chromosome inversion. Am J Hum Genet 1996;58:1231-8.
2. Kocova M, Siegel SF, Wenger SL, Lee PA, Nalesnik M, Trucco M. Detection of Y chromosome sequences in a 45,X/46,XXq- patient by Southern blot analysis of PCR-amplified DNA and fluorescent in situ hybridization (FISH). Am J Med Genet 1995;55:483-8.
3. Sugarman ID, Crolla JA, Malone PS. Mixed gonadal dysgenesis and cell line differentiation. Case presentation and literature review. Clin Genet 1994;46:313-15.
4. Fugimoto A, Boeder WD, Sparkes RS, Lin MS, Battersley K. Monozygotic wins of discordant sex both with 45,X/46,X,idic (Y) mosaicism. Am J Med Genet 1991;41: 239-45.
5. Mendez JP, Ulloa-Aguirre A, Kofman-Alfaro S, et al. Mixed gonadal dysgenesis: clinical, cytogenetic, endocrinological and histopathological findings in 16 patients. Am J Med Genet 1993;46:263-7.
6. Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in posmatally diagnosed cases. Am J Med Genet 1994;53: 108-40.
7. Tsuchiya K, Reijo R, Page DC, Disteche CM. Gonadoblastoma: molecular definition of a susceptibility region on the Y chromosome. Am J Hum Genet 1995;57:1400-7.
8. Petrovic V, Nasioulas S, Chow CW, Voullaire L, Schmidt M, Dahl H. Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies. J Med Genet 1992;29:542-6.
9. Salo P, Kaariainen H, Petrovic V, Peltomaki P, Page DC, de la Chapelle A. Molecular mapping of the putative gonadoblastoma locus on the Y chromosome. Genes Chrom Cancer 1995;14:210-14.
10. Bisat T, May K, Litmer S, Breeder B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia. Clin Genet 1993;43:142-5.