Article
Familial occurrence of agonadism and multiple internal malformations in phenotypically normal girls with 46,XY and 46,XX karyotypes, respectively: a new autosomal recessive syndrome.
American journal of medical genetics - 1 Dec 1993
Kennerknecht I, Sorgo W, Oberhoffer R, Teller W M, Mattfeldt T, Negri G, Vogel W
Abstract excerpt
We report on 2 phenotypic sisters, one with 46,XY; the other with 46,XX. The 2 girls had similar related internal malformations, including agonadism, hypoplasia of the right pulmonary artery, hypoplasia of the right lung, isolated dextrocardia with complex vitium cordis, and diaphragmatic hernia...
Topics
- Abnormalities, Multiple
- Diagnosis, Differential
- Female
- Genes, Recessive
- Genitalia, Female
- Heart Defects, Congenital
- Hernia, Umbilical
- Humans
- Karyotyping
- Lung
- Phenotype
- Pulmonary Artery
- Syndrome
- X Chromosome
- Y Chromosome