A female infant with duplication of chromosome 2q33 to 2q37.3.
We report a 13-month-old female child with a de-novo inverted duplication of chromosome 2q extending from 2q33 to 2q37.3. She had microcephaly and craniofacial dysmorphism compatible with previously reported cases with overlapping duplications of chromosome 2q. Although a facial phenotype for pure partial trisomy 2q3 has been described, some controversy still exists regarding possible band specificity for the facial findings. We consider this child provides further evidence for a recognizable facial appearance associated with duplication of chromosome band 2q33 to 2q37.3. Other clinical features found with duplication for chromosome 2q3 have been variable and we provide a summary of the findings in previously reported cases.
Slavotinek
Anne M
AM
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA. slavotia@peds.ucsf.edu
Boles
Debra
D
Lacbawan
Felicitas
F
D002889:Chromosomes, Human, Pair 2; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D010641:Phenotype; D014314:Trisomy