Phenotypic effects of inherited balanced translocation.
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 suspected. 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 brain-damaged, mentally retarded children.
D000015:Abnormalities, Multiple / Q000209:etiology; D002490:Central Nervous System / Q000002:abnormalities; D002900:Chromosomes, Human, 1-3; D002903:Chromosomes, Human, 19-20; D002905:Chromosomes, Human, 4-5; D002906:Chromosomes, Human, 6-12 and X; D003937:Diagnosis, Differential; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014178:Translocation, Genetic