Trisomy 17p

Alternative Names

  • 17p 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

17p

Description

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. [From Orphanet]

Epidemiology in the Arab World

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Other Reports

Lebanon

Mégarbané et al (1997) decribed a Lebanese patient who presented with a triangular face, wide forehead, telecanthus, large ears, prominent root of the nose, long and bulging philtrum, thin upper lip, everted lower lip, high arched palate, micrognathism, pointed chin, overriding toes, joint laxity, and mild mental retardation. He was found to carry a duplication of the last band of chromosome 17 (trisomy 17pter). 

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