Cat cry (Cri du Chat) syndrome (Report of an Iranian family with two affected offspringdue to maternal balanced translocation, and review of the literature)

Herein an Iranian family with two affected offspring with mental retardation and dysmorphic features is being reported. On detailed investigation they have been diagnosed that are suffering from Cat cry syndrome. Because the two children were product of mothers two separate husbands, she was suspected to be balanced carrier for a chromosome abnormality. Chromosome analysis in the mother showed that she is carrier of a balanced translocation between chromosomes 5 and 20. The mother married again, and prenatal diagnosis by amniocentesis had been carried out on her third pregnancy. The fetus was a normal male and now he is about one year old healthy baby.