Prenatal diagnosis of cri du chat (5p‐) syndrome in association with isolated moderate bilateral ventriculomegaly | Zendy

Stefanou E.G. G. | Zendy; Hanna G. | Zendy; Foakes A. | Zendy; Crocker M. | Zendy; Fitchett M. | Zendy

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Prenatal diagnosis of cri du chat (5p‐) syndrome in association with isolated moderate bilateral ventriculomegaly

Author(s) -

Stefanou E.G. G.,

Hanna G.,

Foakes A.,

Crocker M.,

Fitchett M.

Publication year - 2002

Publication title -

prenatal diagnosis

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.956

H-Index - 97

eISSN - 1097-0223

pISSN - 0197-3851

DOI - 10.1002/pd.243

Subject(s) - ventriculomegaly , amniocentesis , karyotype , prenatal diagnosis , medicine , fluorescence in situ hybridization , fish <actinopterygii> , gynecology , pathology , fetus , biology , chromosome , pregnancy , genetics , gene , fishery

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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