Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).
We describe a patient with partial trisomy 3p resulting from maternal translocation, t(3:4)(p23;q35). The male newborn who died at the age of 22 hours presented with distinct facial features including a square-shaped face with prominent forehead and depressed temporal regions, prominent cheeks, short broad nose, left cleft lip and cleft palate, malformed ears, and a receding mandible. Further findings were flexion deformities of the fingers with finger-like thumbs and mild cutaneous syndactyly 2/3 and 4/5, hypoplastic penis and scrotum with no palpable testes. He probably had a congenital heart defect and situs inversus abdominalis. Many of these features have been reported in other patients with distal trisomy 3p.
D000015:Abnormalities, Multiple; D002900:Chromosomes, Human, 1-3; D002905:Chromosomes, Human, 4-5; D004431:Ear, External / Q000002:abnormalities; D005146:Facial Asymmetry / Q000151:congenital; D005385:Fingers / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008334:Mandible / Q000002:abnormalities; D010413:Penis / Q000002:abnormalities; D014178:Translocation, Genetic; D014314:Trisomy