Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/200323
Type: Artigo de periódico
Title: The Use Of Fluorescence In Situ Hybridization In The Diagnosis Of Hidden Mosaicism: Apropos Of Three Cases Of Sex Chromosome Anomalies.
Author: Maciel-Guerra, Andréa Trevas
Paulo, Juliana De
Santos, Ana Paula
Guaragna-Filho, Guilherme
Andrade, Juliana Gabriel Ribeiro
Siviero-Miachon, Adriana Aparecida
Spinola-Castro, Angela Maria
Guerra-Júnior, Gil
Abstract: FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy.
Subject: Child
Child, Preschool
Female
Gonadal Dysgenesis, Mixed
Humans
In Situ Hybridization, Fluorescence
Male
Mosaicism
Sex Chromosome Aberrations
Turner Syndrome
Young Adult
Rights: aberto
Identifier DOI: 
Address: http://www.ncbi.nlm.nih.gov/pubmed/23295296
Date Issue: 2012
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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