Article
Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2000
Gilhuis H J, van Ravenswaaij C M, Hamel B J, Gabreëls F J
Abstract excerpt
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...
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