Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome).
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome.
Foley
Patricia
P
National Maternity Hospital University College Dublin, Fetal Medicine Unit, National Maternity Hospital National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
McAuliffe
Fionnuala
F
Mullarkey
Marice
M
Reardon
William
W
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009006:Monosomy; D011247:Pregnancy; D011296:Prenatal Diagnosis; D013577:Syndrome