Karaer, Kadri Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Kozan, Salih Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Torun, Deniz Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Kaya, Halide Gülhane Askeri Tıp Akademisi - Tıbbi Biyoloji Anabilim Dalı, Turkey , Rosti, Rasim Özgür Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey , Güran, Şefik Gülhane Askeri Tıp Akademisi - Tıbbi Biyoloji Anabilim Dalı, Turkey , Bahçe, Muhterem Gülhane Askeri Tıp Akademisi - Tıbbi Genetik Bilim Dalı, Turkey

Early diagnosis Prader Willi syndrome in a case with dysmorphic facial appearance, neonatal hypotonia and feeding difficulty

33016

Prader Willi syndrome (PWS) is due to a paternal deletion of the long arm of chromosome 15 (15q11-13), maternal uniparental dysomy or chromosomal rearrangement of this region. It is usually characterized by central hypotonia and feeding problems during the neonatal period, characteristic craniofacial appearance and hypogonadotrophic hypogonadism. Developmental delay, mental retardation and obesity can be observed during the childhood years. In our manuscript, we present a 9 month-old male with dysmorphic facial appearance, neonatal hypotonia and feeding difficulties. Since the phenotype was suggestive of PWS, we performed Fluorescence in situ Hybridization (FISH) analysis (specific for 15q11-13 region) along with routine karyotype. The case whose routine karyotype was found as normal, had a deletion in 15q11-13 region in FISH analysis. During genetic counseling, the family was informed about the future aspects (developmental delay, mental retardation, obesity, hypogonadism) of PWS. Our case represents the importance of diagnosis of PWS in early diagnosis with dysmorphic facial appearance, neonatal hypotonia and feeding difficulty findings and emphasizes the possible role of the FISH analysis for diagnosis.

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Prader Willi Syndrome , early diagnosis , FISH

Cumhuriyet Medical Journal

105