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Phenotypic effects of inherited balanced translocation

1982; Wiley; Volume: 11; Issue: 2 Linguagem: Inglês

10.1002/ajmg.1320110207

1096-8628

Zhao Ying, Cheng Zaiyu, Chunyun Liu, Wilson Hwei‐yuen Lo, John M. Opitz, John M. Opitz,

Genomics and Rare Diseases

Abstract We report two cases of inherited balanced translocation with severe CNS abnormalities and a number of other physical findings. In both cases a multiple congenital anomalies/mental retardation (MCA/MR) syndrome was supected However, in one case, parturitional and neonatal complications probably resulted in brain damage; in the other, prenatal brain damage due to intoxication from a dead twin or porencephalic cysts due to vascular accidents remain unconfirmed hypotheses. It is concluded that no MCA/MR syndrome was present and that the inherited balanced translocation was a coincidental finding in these two braindamaged, mentally retarded children.