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
de Zh
| WPRIM
| ID: wpr-350844
Bibliothèque responsable:
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>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Délétion de séquence
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Chromosomes Y humains
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Analyse sur microréseau
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Diagnostic
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Foetus
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Génétique
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Infertilité masculine
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Caryotypage
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Mosaïcisme
Type d'étude:
Diagnostic_studies
Limites du sujet:
Adult
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Humans
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Male
langue:
Zh
Texte intégral:
National Journal of Andrology
Année:
2013
Type:
Article