Article
Agonadism in a 46,XY patient with CHARGE association.
American journal of medical genetics - 1 Jan 1992
Kushnick T, Wiley J E, Palmer S M
Abstract excerpt
We report on an infant girl born with findings of CHARGE association who proved to be a genetic male (46,XY) on cytogenetic study. Further investigation of the genitalia demonstrated partially female internal organs but absence of gonads by ultrasonography, hormone studies, and absence of ZFY by...
Topics
- Abnormalities, Multiple
- Choanal Atresia
- DNA Probes
- Ear, External
- Encephalocele
- Gonadal Dysgenesis, 46,XY
- Growth Disorders
- Heart Defects, Congenital
- Humans
- In Vitro Techniques
- Infant
- Male
- Phenotype