Interstitial 15q deletion without a classic Prader‐Willi phenotype
- 15 March 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (4) , 532-534
- https://doi.org/10.1002/ajmg.1320380406
Abstract
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 usually seen in Prader‐Willi and Angelman syndromes.Keywords
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