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Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5
Author(s) -
Price Natalia,
Bahra Mandeep,
Griffin David,
Hanna Ghaly,
Stock Anthony
Publication year - 2005
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.1210
Subject(s) - amniocentesis , cornelia de lange syndrome , chromosomal translocation , karyotype , prenatal diagnosis , medicine , gynecology , gestation , chromosome analysis , obstetrics , fetus , amniotic fluid , pregnancy , chromosome , pediatrics , biology , genetics , gene
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. Copyright © 2005 John Wiley & Sons, Ltd.