Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus / 中华男科学杂志
National Journal of Andrology
; (12): 642-646, 2013.
Article
em Zh
| WPRIM
| ID: wpr-350844
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.</p><p><b>METHODS</b>Following conventional chromosome preparation, we performed G- and C-banding karyo. typing and fluorescence in situ hybridization (FISH). Then we extracted genomic DNA using standard procedures and analyzed it by array-CGH and multiplex ligation-dependent probe amplification (MLPA).</p><p><b>RESULTS</b>Both cases were diagnosed as 45, X/46, X, idic (Yp11.31) mosaicism. The man showed 2 intact copies of Yp11.31-q12 (chrY:2, 710, 250-57, 428, 567, SRY, ZFY, UTY and AZF), and the prenatal fetus exhibited similar findings except a paternal deletion in the AZFc region.</p><p><b>CONCLUSION</b>idic(Y) (p11.31) causes short stature and male infertility. Array-CGH and MLPA can improve the accuracy of the diagnosis of 45, X/46, X, idic (Y) mosaicism, which may contribute to the studies of the phenotype-genotype correlation and clinical genetic counseling.</p>
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Deleção de Sequência
/
Cromossomos Humanos Y
/
Análise em Microsséries
/
Diagnóstico
/
Feto
/
Genética
/
Infertilidade Masculina
/
Cariotipagem
/
Mosaicismo
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Zh
Revista:
National Journal of Andrology
Ano de publicação:
2013
Tipo de documento:
Article