ORIGINAL ARTICLESA female infant with duplication of chromosome 2q33 to 2q37.3Slavotinek, Anne M.a; Boles, Debrab; Lacbawan, FelicitasaAuthor Information aMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA bInstitute for Molecular and Human Genetics, Georgetown University Hospital, 3800 Reservoir Rd NW, Washington DC 20007, USA Correspondence and request for reprints to Anne M. Slavotinek, Department of Pediatrics, Division of Genetics, University of California, San Francisco and Room U585P, 533 Parnassus St, San Francisco California 94143-0748, USA Tel: +1 415 514 1783; fax: +415 476 9976; e-mail: firstname.lastname@example.org Received 18 July 2002 Accepted 25 May 2003 Clinical Dysmorphology: October 2003 - Volume 12 - Issue 4 - p 251-256 Buy Abstract 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. © 2003 Lippincott Williams & Wilkins, Inc.