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Turk J Pediatr. 1993 Oct-Dec;35(4):333-6.

A case of Prader Willi syndrome with del 15 (q11-->q13).

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  • 1Department of Medical Biology, Ankara University Faculty of Medicine.

Abstract

Cytogenetic analysis was performed on a four-year-old girl with obesity, mental retardation, recurrent febrile convulsions and a provisional diagnosis of Prader Willi syndrome. High-resolution banding was done to observe the subchromosomal deletion. An interstitial deletion (q11-->q13) on one of the 15th chromosomes was observed in all metaphases.

PMID:
8160287
[PubMed - indexed for MEDLINE]
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