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The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

1983; Wiley; Volume: 14; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320140418

1096-8628

Nicole J. Martin, Barry G. Steinberg, John M. Opitz,

Congenital limb and hand anomalies

Abstract We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.