Article Text

PDF

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.
  1. A Mégarbané,
  2. N Souraty,
  3. M Prieur,
  4. D Theophile,
  5. P Chédid,
  6. J Augé,
  7. M Vekemans
  1. Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

    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.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.