The dup(3q) syndrome: Report of eight cases and review of the literature
- 1 January 1981
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 10 (2), 159-177
- https://doi.org/10.1002/ajmg.1320100210
Abstract
Clinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down turned corners of the mouth, highly arched or cleft palate, micrognathia, malformed auricles, short, webbed neck, clinodactly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizably entity.Keywords
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