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. 1997 Sep;34(9):783–786. doi: 10.1136/jmg.34.9.783

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

A Mégarbané 1, N Souraty 1, M Prieur 1, D Theophile 1, P Chédid 1, J Augé 1, M Vekemans 1
PMCID: PMC1051069  PMID: 9321771

Abstract

An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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