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Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3

โœ Scribed by A. Delahaye; A. Toutain; A. Aboura; C. Dupont; A.C. Tabet; B. Benzacken; J. Elion; A. Verloes; E. Pipiras; S. Drunat


Book ID
116433195
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
374 KB
Volume
52
Category
Article
ISSN
1769-7212

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Deletion 22q13.3 syndrome
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The deletion 22q13.3 syndrome (deletion 22q13 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. The deletion occ

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We report on a 3-year-old girl who has an interstitial deletion of chromosome 8q [46,XX, de1(8)(q13.3q22.1)1. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The ma