Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

Abstract Background A 46,XY sex reversal syndrome is characterized by discordant genetic and phenotypic sex, leading to normal external female genitalia, undeveloped gonads and presence of Müllerian structures in an otherwise 46,XY individual. Chromosome 9pter aberrations, such as ring chromosome ha...

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Bibliographic Details
Main Authors: Bagas A. Marsudi, Hannie Kartapradja, Chrysantine Paramayuda, Jose R. L. Batubara, Alida R. Harahap, Nanis S. Marzuki
Format: Article
Language:English
Published: BMC 2018-05-01
Series:Molecular Cytogenetics
Subjects:
DMRT1
Sex-reversal
46,XY-DSD
Ring-chromosome-9
Short-stature
Online Access:http://link.springer.com/article/10.1186/s13039-018-0379-z

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http://link.springer.com/article/10.1186/s13039-018-0379-z

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