Pure distal trisomy 2q: a rare chromosomal abnormality with recognizable phenotype.
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.
Elbracht
Miriam
M
Medical Faculty, Institute of Human Genetics, University Hospital, RWTH Aachen University, Aachen, Germany. mielbracht@ukaachen.de
Roos
Andreas
A
Schönherr
Nadine
N
Busse
Sabine
S
Damen
Reinhild
R
Zerres
Klaus
K
Rudnik-Schöneborn
Sabine
S
Schüler
Herdit Monika
HM
D000293:Adolescent; D000483:Alleles; D002675:Child, Preschool; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010641:Phenotype; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*