Article
A case report of monozygotic twins with Smith-Magenis syndrome.
Journal of developmental and behavioral pediatrics : JDBP - 1 Feb 2008
Hicks Matthew, Ferguson Susan, Bernier Francois, Lemay Jean-François
Abstract excerpt
Monozygotic 3.5-year-old twin boys presented for developmental assessment with a history of global developmental delay, behavioral issues including self-harm, and severe receptive and expressive language delays. Chromosome testing confirmed for both a 17p11.2 interstitial microdeletion commonly seen in Smith-Magenis syndrome (SMS), which is characterized by developmental delay, cognitive impairment, and facial...
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