Prenatal diagnosis of a dup(3p) with holoprosencephaly
- 1 January 1987
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (1) , 225-227
- https://doi.org/10.1002/ajmg.1320260134
Abstract
The prenatal diagnosis of dup(3p) was made in a female conceptus, the father being a known carrier of a balanced translocation t(3;10)(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 malfor‐mations were different in each of the 3 patients, suggesting a considerable degree of variability of dup(3p).Keywords
This publication has 4 references indexed in Scilit:
- Dup(3)(p2→pter) in two families, including one infant with cyclopiaAmerican Journal of Medical Genetics, 1985
- Partial trisomy 3p in two siblings: Clinical and pathological findingsEuropean Journal of Pediatrics, 1983
- The dup(3)(p25 → pter) syndrome: A case with holoprosencephalyAmerican Journal of Medical Genetics, 1983