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  • Title: Trisomy 3 (p23-pter) resulting from maternal translocation, t (3 ; 4)(p23 ; q35).
    Author: Schinzel A, Hanson JW, Pagon RA, Hoehn H, Smith DW.
    Journal: Ann Genet; 1978 Sep; 21(3):168-71. PubMed ID: 315193.
    Abstract:
    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.
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