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A New Case of Pure Partial 7q Duplication

12 Nov 2011

Abstract excerpt

We report on an 18-month-old boy conceived by assisted reproduction technology with developmental delay, hypotonia, microcephaly, frontal bossing, a mild convergent squint, malformed ears, and a short neck. Karyotype analysis revealed a de novo 7q21.1q22.3 duplication characterized by array comparative genomic hybridization (array-CGH) as a segment of 18.69 Mb. Duplications of the long arm of chromosome 7 are...

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Share to Chromosomal and Genetic Variations
Share to Genomic variations and chromosomal abnormalities
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PMID: 22086126
DOI: 10.1159/000334111

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