TRISOMY-3 (P23-PTER) RESULTING FROM MATERNAL TRANSLOCATION, T (3-4) (P23-Q35)

  • 1 January 1978
    • journal article
    • research article
    • Vol. 21  (3) , 168-171
Abstract
A patient with partial trisomy 3p resulting from maternal translocation, t(3;4) (p23;q35) is described. The male newborn who died at the age of 22 h 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 were reported in other patients with distal trisomy 3p.

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