Interstitial 15q deletion without a classic Prader-Willi phenotype |
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| Authors: | F Galán M S Aguilar J González F Clemente R Sánchez M Tapia M Moya |
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| Affiliation: | Departamento de Pediatría, Universidad de Alicante, Spain. |
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| 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. |
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