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The cri-du-chat syndrome, one of the most common human deletion syndromes, is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat like cry which has recently been localized to 5pl5.3 and is separate from the remaining clinical features of the syndrome, so called microcephaly, round face, hypertelorism, micrognathia, low set ear, which have been localized to 5pl5.2. But genitourinary anomaly is extremly rare. We report a case of cri-du-chat syndrome with del 5pl4.1 which was confirmed by chromosomal study, and who had combined genitourinary anomalies with right hydronephrosis and hydroureter, contracted left kidney.
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