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Article

Clinical and genomic characterization of siblings with a distal duplication of chromosome 9q (9q34.1‐qter)

10 Aug 2011

Abstract excerpt

We report herein on two female siblings exhibiting mild intellectual disability, hypotonia in infancy, postnatal growth retardation, characteristic appearance of the face, fingers, and toes. Their healthy mother had a translocation between 9q34.1 and the 13pter. FISH and array CGH analysis demonstrated that the two children had an additional 8.5 Mb segment of the 9q34.1-qter at 13pter. The clinical features of...

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PMID: 21834029
DOI: 10.1002/ajmg.a.34160

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