Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.

Abstract

We present clinical and molecular cytogenetic results of two unrelated patients with isolated distal trisomy of 2q33-qter and 2q35-q37.3 and a remarkable similar facial appearance. Common craniofacial features included a high hairline, broad nasal bridge, prominent nasal tip, thin upper lip vermillion, and large ears. Contrary to patients with duplications proximal to 2q33, the children with pure trisomy distal to 2q35 have normal or increased body measurements and show no major malformations. Moderate psychomotor delay was a constant finding.

• Authors: Miriam Elbracht, Andreas Roos, Nadine Schönherr, Sabine Busse, Reinhild Damen, Klaus Zerres, Sabine Rudnik-Schöneborn, Herdit Monika Schüler
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 11 Pg. 2547-50 (Nov 2009) ISSN: 1552-4833 [Electronic] United States
• PMID: 19876899 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Wiley-Liss, Inc.

Topics

• Adolescent
• Alleles
• Child, Preschool
• Chromosomes, Human, Pair 2 (genetics)
• Facies
• Female
• Humans
• Infant
• Infant, Newborn
• Phenotype
• Pregnancy
• Trisomy (genetics)