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Prenatal diagnosis of a dup(3p) with holoprosencephaly

✍ Scribed by Gillerot, Yves ;Hustin, Jean ;Koulischer, Lucien ;Viteux, Vincent ;Neri, Giovanni ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 217 KB
Volume: 26
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320260134

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✦ Synopsis

The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3; lO)(p21 ;q26). Interruption of pregnancy at 19 weeks showed a fetus with a holoprosencephaly field defect. Two other cases of dup(3p) have been observed in the same family. The malformations were different in each of the 3 patients, suggesting a considerable degree of variability of dup(3p).

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