The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly
- 1 April 1983
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 14 (4) , 767-772
- https://doi.org/10.1002/ajmg.1320140418
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.Keywords
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