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  • Title: Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
    Author: Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreëls FJ.
    Journal: Eur J Paediatr Neurol; 2000; 4(1):39-43. PubMed ID: 10701104.
    Abstract:
    We report on an additional fourth case of Prader-Willi (PW)-like phenotype and an interstitial deletion of 6q. Despite sharing clinical characteristics, patients with a PW-like phenotype and a deletion of 6q, have features which distinguish them from Prader-Willi syndrome (PWS) patients. This case emphasizes the need to examine patients with suspected PWS, but who are negative for recognizable deletions of 15q11-q13 or uniparental maternal disomy of chromosome 15, for a deletion of 6q.
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