2006•American Journal of Medical Genetics Part ARequires access

A patient with duplication (7)(p22.1pter) characterized by array‐CGH

Laila F. Zahed, Tiziano Pramparo, Chantal Farra, Mohamad A. Mikati, Orsetta Zuffardi

Abstract

Approximately 40 patients with terminal duplication of the distal short arm of chromosome 7 have been reported, the smallest being dup(7)(p21). We report here on a patient with a smaller duplication, dup(7)(p22.1), detected on G-banding and characterized by array-CGH. We establish phenotype-karyotype correlations with the reported patients with other 7p duplications.

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Available abstract

Key concepts: dup, Gene duplication, Karyotype, Genetics, Biology, Phenotype, Chromosome, Gene