Article
De novo interstitial deletion of 1p (pter----p34.1::p32.3----qter).
Journal of medical genetics - 1 Aug 1991
Yoshino M, Watanabe Y, Harada N, Abe K
Abstract excerpt
We report a case of a 9 month old girl with a de novo interstitial deletion of 1p, karyotype 46,XX, del(1)(pter----p34.1::p32.3----qter). She had dysmorphic features including upward slanting palpebral fissures, a bulbous nose, a long philtrum, low set and malformed ears, a short neck, hypoplastic nails on both index fingers, widened interdigital spaces between the toes, dilated lateral ventricles, right...
Topics
- Abnormalities, Multiple
- Cell Line, Transformed
- Chromosome Deletion
- Chromosomes, Human, Pair 1
- Female
- Head
- Humans
- Infant
- Karyotyping
- Phenotype