Publication: Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34)
Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34)
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Schinzel, A., & Opitz, J. M. (1984). Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34). American Journal of Medical Genetics, 18, 153–161. https://doi.org/10.1002/ajmg.1320180119
Abstract
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Abstract
This is a report of a family with a balanced reciprocal translocation, rep (1;7)(q32;q34). Among pregnancies from translocation carriers, there were several miscarriages, and two unbalanced offspring with dup(1q32→qter) and del (7q34→qter) who died perinatally. One was a male cyclops with additional brain malformations and hydronephrosis, the other was a cebocephalic female with multiple additional malformations of heart, kidneys, and skeleton. In both pregnancies, the brain and renal anomalies were detected prenatally by ultrasound,
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- Schinzel, Albert
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Schinzel, A., & Opitz, J. M. (1984). Cyclopia and cebocephaly in two newborn infants with unbalanced segregation of a familial translocation rcp (1;7)(q32;q34). American Journal of Medical Genetics, 18, 153–161. https://doi.org/10.1002/ajmg.1320180119
