TY - JOUR
T1 - Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation
AU - Weichert, Jan
AU - Schröer, Andreas
AU - Beyer, Daniel Alexander
AU - Gillessen-Kaesbach, Gabriele
AU - Stefanova, Irina
PY - 2011/7/1
Y1 - 2011/7/1
N2 - Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and mental retardation. We report on two subsequent pregnancies with antenatally diagnosed CdLS at 23 and 14 gestational weeks, respectively, of an otherwise healthy gravida. Molecular genetic testing revealed a rare case of gonadal mosaicism of a nonsense NIPBL gene mutation.
AB - Cornelia de Lange syndrome (CdLS) (also referred to as Brachmann-de Lange syndrome) constitutes a multisystem developmental anomaly which is characterized by facial dysmorphism, upper limb deformities, and mental retardation. We report on two subsequent pregnancies with antenatally diagnosed CdLS at 23 and 14 gestational weeks, respectively, of an otherwise healthy gravida. Molecular genetic testing revealed a rare case of gonadal mosaicism of a nonsense NIPBL gene mutation.
UR - http://www.scopus.com/inward/record.url?scp=79958067880&partnerID=8YFLogxK
U2 - 10.3109/14767058.2010.531312
DO - 10.3109/14767058.2010.531312
M3 - Journal articles
C2 - 21338332
AN - SCOPUS:79958067880
SN - 1476-7058
VL - 24
SP - 978
EP - 982
JO - Journal of Maternal-Fetal and Neonatal Medicine
JF - Journal of Maternal-Fetal and Neonatal Medicine
IS - 7
ER -