16p11.2 microdeletion syndrome: a case report

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16p11.2 microdeletion syndrome: a case report

BACKGROUND The recurrent ∼ 600 kb 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. CASE PRESENTATION Our patient is a 2-year-old white girl from the first pregnancy of a non-consanguineous healthy young white couple (father 33-years old and mother 29-years old). Our patient and her ...

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ژورنال

عنوان ژورنال: Journal of Medical Case Reports

سال: 2018

ISSN: 1752-1947

DOI: 10.1186/s13256-018-1587-1