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

AUTOR(ES)

Mégarbané, A

RESUMO

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.

Documentos Relacionados

• Interstitial deletion of chromosome 10q23: a new case and review.
• Deletion of chromosome 2 (p11-p13): case report and review.
• Interstitial deletion of the long arm of chromosome 2: del(2)(q31q33).
• Interstitial deletion of the short arm of chromosome 4.
• Deletion of the short arm of chromosome 3: a case report with necropsy findings.