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  • Title: Interstitial 15q deletion without a classic Prader-Willi phenotype.
    Author: Galán F, Aguilar MS, González J, Clemente F, Sánchez R, Tapia M, Moya M.
    Journal: Am J Med Genet; 1991 Mar 15; 38(4):532-4. PubMed ID: 2063892.
    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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