Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.
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.
Stefanou
E-G G
EG
Oxford Medical Genetics Laboratories, Churchill Hospital, Headington, Oxford, UK. eunice_stefanou@hotmail.com
Hanna
G
G
Foakes
A
A
Crocker
M
M
Fitchett
M
M
D000328:Adult; D000649:Amniocentesis; D002552:Cerebral Ventricles / Q000002:abnormalities* / Q000000981:diagnostic imaging; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000097:blood; D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D016216:Ultrasonography, Prenatal; D000509:alpha-Fetoproteins / Q000032:analysis
D018997:Chorionic Gonadotropin, beta Subunit, Human; D000509:alpha-Fetoproteins