Trisomy 17p due to A t(5;17) (p15;p11) pat translocation.
A 6-month-old Japanese boy with trisomy 17p, resulting from a paternal balanced translocation t(5;17)(p15;p11), is described. Comparison of his clinical features with those of two previously reported patients with trisomy 17p revealed a characteristic combination of clinical features. They included intra- and extra-uterine growth retardation, developmental retardation, microcephaly, internal hydrocephalus, a facies with lateral displacement of the inner canthi, antimongoloid slanting of the palpebral fissures, a broad nasal bridge, and micrognathism, low-set, large and simple ears, a short and webbed neck, and flexion deformities of the fingers. The external genitalia in the two male patients were characterized by a small penis, undescended testes and a hypoplastic scrotum. Congenital cardiac defect was present in two of the three patients.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D002905:Chromosomes, Human, 4-5 / Q000648:ultrastructure; D003878:Dermatoglyphics; D006801:Humans; D007223:Infant; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy