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J Matern Fetal Neonatal Med. 2011 Jun;24(6):863-6. doi: 10.3109/14767058.2010.531321. Epub 2011 Mar 2.

Mutation analysis of the SRY, NR5A1, and DHH genes in six Chinese 46,XY women.

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1
State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan, China.

Abstract

OBJECTIVE:

To determine the genetic cause of 46,XY sex reversal in six Chinese women.

METHODS:

G-banded karyotyping and mutation analysis of the SRY, NR5A1, and DHH genes using direct sequencing were performed in six Chinese women aged from 15- to 23-year old with poor sexual development and primary amenorrhea. Clinical, endocrinologic, and ultrasonographic evaluation was reported.

RESULTS:

Three novel mutations, two heterozygous point mutations in SRY, and one heterozygous microdeletion in NR5A1 were found to be causative in three of the patients.

CONCLUSION:

This helps pathogenic study and provides new information for genetic counseling of 46,XY sex reversals.

PMID:
21366396
DOI:
10.3109/14767058.2010.531321
[Indexed for MEDLINE]
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