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  • Title: The dup(3)(p25 leads to pter) syndrome: a case with holoprosencephaly.
    Author: Martin NJ, Steinberg BG.
    Journal: Am J Med Genet; 1983 Apr; 14(4):767-72. PubMed ID: 6846406.
    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.
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