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  • Title: Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.
    Author: Stefanou EG, Hanna G, Foakes A, Crocker M, Fitchett M.
    Journal: Prenat Diagn; 2002 Jan; 22(1):64-6. PubMed ID: 11810654.
    Abstract:
    A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.
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