Article
[49 XXXXY syndrome. Description of 2 clinical cases].
La Pediatria medica e chirurgica : Medical and surgical pediatrics - 1 Jan 2000
Verotti A, Chiarelli F, Violante N, Pellegrini E, Palka G
Abstract excerpt
Two children with the 49, XXXXY syndrome were described. The main symptoms were the cranio-facial abnormalities (for exp. upward slant to palpebral fissures), hypogonadism with a small penis, skeletal abnormalities (especially radioulnar synostosis) and severe mental deficiency. The diagnosis, suggested by the clinical picture, was confirmed by the karyotypic analysis.
Topics
- Humans
- Infant, Newborn
- Karyotyping
- Male
- Phenotype
- Sex Chromosome Aberrations
- Syndrome
- X Chromosome