The dup(3q) syndrome: report of eight cases and review of the literature.

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 plate, micrognathia, malformed auricles, short, webbed neck, clinodactyly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizable entity.

• Authors: P Steinbach, W N Adkins Jr, H Caspar, K W Dumars, J Gebauer, E F Gilbert, T Grimm, M Habedank, I Hansmann, J Herrmann, E G Kaveggia, U Langenbeck, L F Meisner, T M Najafzadeh, J M Opitz, C G Palmer, H H Peters, W Scholz, A S Tavares, C Wiedeking
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 10 Issue 2 Pg. 159-77 ( 1981) ISSN: 0148-7299 [Print] United States
• PMID: 7315873 (Publication Type: Case Reports, Journal Article, Research Support, U.S. Gov't, P.H.S.)

Topics

• Abnormalities, Multiple (genetics)
• Child
• Child, Preschool
• Chromosome Aberrations (genetics)
• Chromosome Disorders
• Chromosomes, Human, 1-3 (ultrastructure)
• Dermatoglyphics
• Female
• Growth Disorders (genetics)
• Humans
• Infant
• Infant, Newborn
• Intellectual Disability (genetics)
• Karyotyping
• Male
• Pedigree