[Cytogenetic and molecular analysis of idic(Yp) in 1 infertile man and 1 prenatal fetus].
Zhonghua Nan Ke Xue
; 19(7): 642-6, 2013 Jul.
Article
en Zh
| MEDLINE
| ID: mdl-23926684
ABSTRACT
OBJECTIVE:
To evaluate idic(Yp) in genetic diagnosis by examining 1 infertile man and 1 prenatal fetus using cytogenetic and molecular techniques.METHODS:
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).RESULTS:
Both cases were diagnosed as 45, X/46, X, idic (Yp11.31) mosaicism. The man showed 2 intact copies of Yp11.31-q12 (chrY2, 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.CONCLUSION:
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.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas Humanos Y
/
Feto
/
Infertilidad Masculina
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Humans
/
Male
Idioma:
Zh
Revista:
Zhonghua Nan Ke Xue
Asunto de la revista:
MEDICINA REPRODUTIVA
Año:
2013
Tipo del documento:
Article
País de afiliación:
China