Article
Interstitial 15q deletion without a classic Prader-Willi phenotype.
American journal of medical genetics - 15 Mar 1991
Galán F, Aguilar M S, González J, Clemente F, Sánchez R, Tapia M, Moya M
Abstract excerpt
We report on a newborn boy with pronounced hypotonia, cryptorchidism, minor facial anomalies, congenital heart defect, neurologic anomaly, deafness, renal anomaly, and bifid uvula. The patient has a de novo proximal interstitial deletion of chromosome 15 reaching to band q14, larger than that usu...
Topics
- Chromosome Banding
- Chromosome Deletion
- Chromosomes, Human, Pair 15
- Humans
- Infant, Newborn
- Male
- Phenotype
- Prader-Willi Syndrome