Duplication of 5q15-q23.2: case report and literature review.
BACKGROUND
Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication.


METHODS
We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.2. She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly-rotated ears.


CONCLUSIONS
A comparison is made with other similar duplication cases reported in the literature and a general description of a proximal 5q duplication phenotype is given, with lack of speech as the principal feature.
Douyard
Jaclyn
J
Program in Genomics, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.
Hawley
Pamela
P
Shaham
Meira
M
Kimonis
Virginia
V
D002874:Chromosome Mapping; D002895:Chromosomes, Human, Pair 5; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005183:Failure to Thrive; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013064:Speech Disorders / Q000235:genetics; D014314:Trisomy