De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).

Yinghui Mu、Daniel L. Van Dyke、Lester Weiss、S Olgac

1984Journal of Medical GeneticsBiochemistry, Genetics and Molecular Biology被引 18开放获取

摘要

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.

引用本文（GB/T 7714）

Yinghui Mu, Daniel L. Van Dyke, Lester Weiss, 等. De novo direct tandem duplication of the proximal long arm of chromosome 2: 46,XX,dir dup(2)(q11 X 2q14 X 2).[J]. Journal of Medical Genetics, 1984.

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DOI：https://doi.org/10.1136/jmg.21.1.57

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