Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

Determination of the sexual phenotype in a child with 45,X/46,X,Idic(Yp) mosaicism: Importance of the relative proportion of the 45,X line in gonadal tissue

Author Guedes, Alexis D. Google Scholar
Bianco, Bianca Google Scholar
Lipay, Monica V. N. Google Scholar
Brunoni, Decio Google Scholar
Chauffaille, Maria de Lourdes Google Scholar
Verreschi, Ieda Therezinha do Nascimento Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Fleury Ctr Diagnost Med
Abstract We report on a girl who, despite her 45,X/46,X,der(Y) karyotype, showed no signs of virilization or physical signs of the Ullrich-Turner syndrome (UTS), except for a reduced growth rate. After prophylactic gonadectomy due to the risk of developing gonadoblastoma, the gonads and peripheral blood samples were analyzed by fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to detect Y-specific sequences. These analyses allowed Lis to characterize the Y-derived chromosome as being an isodicentric Yp chromosorne (idic(Yp)) and showed a pronounced difference in the distribution of the 45,X/46,X,idic(Yp) mosaicism between the two analyzed tissues. It was shown that, although in peripheral blood almost all cells (97.5%) belonged to the idic(Yp) line with a duplicated SRY gene, this did not determine any degree of male sexual differentiation in the patient, as in the gonads the predominant cell line was 45,X (60%). (c) 2006 Wiley-Liss, Inc.
Keywords mosaicism
sex differentiation
isochromosomes
Y chromosome
fluorescence in situ hybridization
polymerase chain reaction
Ullrich-Turner syndrome
Language English
Date 2006-09-01
Published in American Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 140A, n. 17, p. 1871-1875, 2006.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley-Blackwell
Extent 1871-1875
Origin http://dx.doi.org/10.1002/ajmg.a.31363
Access rights Closed access
Type Article
Web of Science ID WOS:000240259900011
URI http://repositorio.unifesp.br/handle/11600/29120

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