Chromosome 7q Duplication Syndrome

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Mode of Inheritance

Autosomal dominant

Gene Map Locus


Epidemiology in the Arab World

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Other Reports


Mégarbané et al (2000) described a patient with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. She was found to carry a chromosome 7q22-q31.3 duplication. 

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