title: Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5.
abstract: We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings.
authors: Department of Obstetrics and Gynaecology, Milton Keynes General Hospital, UK. price@clara.co.uk
authors: Natalia
authors: N
authors: Price
authors: Mandeep
authors: M
authors: Bahra
authors: David
authors: D
authors: Griffin
authors: Ghaly
authors: G
authors: Hanna
authors: Anthony
authors: A
authors: Stock
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D002893:Chromosomes, Human, Pair 3; D002895:Chromosomes, Human, Pair 5; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014463:Ultrasonography