A case of cri-du-chat associated with cataracts and transmitted from a mother with a 4-5 translocation.

The cat cry syndrome (cri-du-chat) was first described by Lejeune et al (1963) in a group of patients with mew-like cry and other congenital anomalies who had a partial deletion of the short arm of a B group chromosome. This partially deleted B group chromosome was subsequently found to be No. 5 by autoradiographic studies performed by German et al (1964). Other prominent manifestations of this syndrome are: low birth weight, mental retardation, failure to thrive, microcephaly, hypertelorism, epicanthal folds, antimongoloid slant, low set ears, micrognathia, and simian lines (Nusbacher and Hirschhorn, 1969). We wish to report a child with cat cry syndrome who also has cataracts. His partially deleted number 5 chromosome was transmitted from his mother who carries a balanced reciprocal translocation t(4q + ;5p -). To our knowledge, cat cry syndrome transmitted from this type of translocation has not been previously reported.