Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly |
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| Authors: | E-G G Stefanou G Hanna A Foakes M Crocker M Fitchett |
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| Institution: | 1. Oxford Medical Genetics Laboratories, Churchill Hospital, Headington, Oxford, UK;2. Milton Keynes General Hospital, NHS Trust, Eaglestone, Milton Keynes, UK |
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| 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. Copyright © 2002 John Wiley & Sons, Ltd. |
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| Keywords: | cri du chat syndrome isolated mild ventriculomegaly prenatal diagnosis |
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