Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH
β Scribed by Goizet, Cyril ;Excoffier, Elsa ;Taine, Laurence ;Taupiac, Emmanuelle ;El Moneim, Azza Abd ;Arveiler, Benoit ;Bouvard, Manuel ;Lacombe, Didier
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 198 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We describe two unrelated patients with cytogenetically visible deletions of 21q22.2βq22.3 and mild phenotypes. Both patients presented minor dysmorphic features including thin marfanoid build, facial asymmetry, downwardβslanting palpebral fissures, depressed nasal bridge, small nose wi
We present here a case report of a fetus with a kidney anomaly and dilated occipital horns, detected initially by echoscopy at 29 weeks' amenorrhoea. After 31 weeks of gestation, the proband was born with clinical symptoms of Miller-Dieker syndrome. This was subsequently confirmed by fluorescence in