Brief clinical report: an infant with duplication of 17q21 lead to 17qter.
Duplication of the distal part of 17q has been reported in 4 patients [1,2]. We are reporting clinical, autopsy, and cytogenetic data on an additional patient whose condition was due to a familial translocation in which the patient's chromosome constitution is 46,XX, der(4),t(4;17)(p16;q21) pat. The phenotype of the five known patients with this duplication is very similar, and their manifestations are distinct enough to be clinically recognizable. Abnormalities common to all five patients are severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow's peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down-turned corners of the mouth, micrognathia, apparently low-set and deformed ears, short webbed neck, and hyperlaxity of the limbs.
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D004261:DNA Replication; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014178:Translocation, Genetic