Article
Cytogenetic investigations in cases of multiple developmental anomalies in children.
Polish medical sciences and history bulletin - 1 Jan 2000
Gajewska-Obel E, Gebala A, Rusin T, Rozynkowa O
Abstract excerpt
The authors studied 59 children including 48 with multiple developmental anomalies and 11 with disturbances of sexual development. In 11 cases (18.6%) the following chromosomal abnormalities were found: in 5 cases of Down's syndrome, 3 cases of full trisomy G, 1 case of 46XX/47XYG+ mosaicism, and in 1 case translocation 46XYD--G--t (DqGq)+. In 3 cases Turner's syndrome was present, with 45XG in 2 cases and...
Topics
- Abnormalities, Multiple
- Child
- Chromosome Aberrations
- Chromosome Disorders
- Diagnosis, Differential
- Female
- Humans
- Karyotyping
- Mutation
- Pregnancy
- Sex Chromosome Aberrations