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Pure distal trisomy 2q: A rare chromosomal abnormality with recognizable phenotype
Author(s) -
Elbracht Miriam,
Roos Andreas,
Schönherr Nadine,
Busse Sabine,
Damen Reinhild,
Zerres Klaus,
RudnikSchöneborn Sabine,
Schüler Herdit Monika
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33086
Subject(s) - trisomy , craniofacial , abnormality , phenotype , chromosomal abnormality , craniofacial abnormality , biology , pathology , anatomy , chromosome , dermatology , genetics , karyotype , medicine , psychiatry , gene
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. © 2009 Wiley‐Liss, Inc.