1. Duplication of 5q15-q23.2: case report and literature review
- Author
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Jaclyn Douyard, Virginia Kimonis, Pamela Hawley, and Meira Shaham
- Subjects
Male ,Embryology ,medicine.medical_specialty ,Microcephaly ,Prominent forehead ,Trisomy ,Biology ,Speech Disorders ,Craniofacial Abnormalities ,Protruding tongue ,Gene Duplication ,Gene duplication ,medicine ,Humans ,Infant, Newborn ,Chromosome ,Chromosome Mapping ,General Medicine ,Anatomy ,medicine.disease ,Surgery ,Failure to Thrive ,Developmental disorder ,Pediatrics, Perinatology and Child Health ,Failure to thrive ,Chromosomes, Human, Pair 5 ,Female ,medicine.symptom ,Developmental Biology - Abstract
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. CASE 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. Birth Defects Research (Part A), 2006. © 2006 Wiley-Liss, Inc.
- Published
- 2006