Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature.
A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment.
Bird
L M
LM
Children's Hospital and Health Center, Division of Genetics/Dysmorphology, San Diego, California 92123, USA. lynnembird@aol.com
Mascarello
J T
JT
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged