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Oligoyric microcephaly in a child with Williams syndrome

✍ Scribed by Francesca Faravelli; Stefano D'Arrigo; Irene Bagnasco; Angelo Selicorni; Ludovico D'Incerti; Daria Riva; Chiara Pantaleoni

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 119 KB
Volume: 117A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.10892

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✦ Synopsis

Abstract

We report a 19‐month‐old boy with microcephaly, growth and developmental delay, facial dysmorphisms, and simplified gyral pattern. Magnetic resonance imaging (MRI) examination demonstrated microcephaly with simplified gyral pattern or oligogyric microcephaly. The facial phenotype was interpreted as suggestive of Williams syndrome (WS). Fluorescence in situ hybridization (FISH) analysis performed with an elastin probe revealed a deletion in the chromosomal band 7q 11.23, confirming the clinical diagnosis. To our knowledge, this represents the first patient with WS and oligogyric microcephaly. © 2002 Wiley‐Liss, Inc.

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