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  • Title: Cri-du-chat syndrome: clinical profile and prenatal diagnosis.
    Author: Tullu MS, Muranjan MN, Sharma SV, Sahu DR, Swami SR, Deshmukh CT, Bharucha BA.
    Journal: J Postgrad Med; 1998; 44(4):101-4. PubMed ID: 10703584.
    Abstract:
    Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.
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