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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.