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Article

Partial trisomy of 11q23.3‐q25 inherited from a maternal low‐level mosaic unbalanced translocation

5 May 2015

Abstract excerpt

Partial trisomy of 11q is characterized by pre/postnatal growth retardation, microcephaly, dysmorphic craniofacial features, cognitive disability, abnormal muscle tone, inguinal hernia, and possible congenital heart defects. Here, we describe a 17-year-old male with a 17.77 Mb-sized [arr 11q23.3-q25 (116,667,559 -134,434,130) ×3] partial trisomy resulting from the unbalanced translocation between chromosomes 11...

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PMID: 25944464
DOI: 10.1002/ajmg.a.36980

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