Abstract
A case of 12 years old girl with cri du chat syndrome was reported. The patient was low weight at birth. Physical examinations revealed drarfism, microcephaly, rounded face with hypertelorism, low set ears and hypognathia. Congenital heart disease was also noted. Neurological examinations showed a marked mental retardation, strabismus and mascular hypotonia. Marked ventricular dilatation was observed in the pneumoencephalography. Dermatoglyphicus showed abnormal (simian crease, axial triradius in the high position etc. ). A deletion of the short arm of the autosomal chromosome No.5 was demonstrated in the chromosome studies, whereas the parents had apparently normal karyotypes.
