## Abstract Postnatally ascertained trisomy 16 mosaicism is a rare diagnosis, with only three reported cases to date with no defined clinical phenotype. Trisomy 16 mosaicism diagnosed prenatally is common and associated with variable pregnancy outcomes ranging from stillbirth with multiple congenit
Mosaic trisomy 9: Two additional cases
β Scribed by Marleen R. Tropp; Marie Currie
- Publisher
- Springer
- Year
- 1977
- Tongue
- English
- Weight
- 490 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
β¦ Synopsis
Two unrelated patients were found to be mosaic for an extra chromosome 9 (46,XX/47,XX,+9). The first patient showed a prominent nose, deep set eyes, carp shaped mouth and complex congenital cardiac anomalies. She died of congestive cardiac failure at the age of 10 days. The second patient, was a 7 1/2 year old female who had persistent alacrimia and mental retardation.
π SIMILAR VOLUMES
The main features of trisomy 9 syndrome in mosaic and non-mosaic forms have been thoroughly described. Characteristic traits are low-set malformed ears, micrognathia, broad nose with bulbous tip, abnormal brain, congenital heart defects, abnormal hands and feet, genital abnormalities, and early deat