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 fam
The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly
✍ Scribed by Martin, Nicole J. ;Steinberg, Barry G. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 286 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0148-7299
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Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.
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