De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

Nasiri, F; Mahjoubi, F; Babamohammadi, G

doi:10.2478/v10034-010-0016-6

Abstract

Cytogenetic analysis of a 1-year-old boy with multiple congenital anomalies revealed partial duplication of the chromosome 7q21.2-q32 band region. His main features included: frontal bossing, small jaw, low-set ears, deep-set eyes, strabismus, drooping left upper eyelid, widely-spaced eyes, short nose, long philtrum, down-curved upper lip, camptodactyly and hypotonia.

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De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

Abstract

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