title: Cornelia de Lange syndrome: antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation.
abstract: 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.
authors.affiliation: Division of Prenatal Medicine, University Hospital of Schleswig-Holstein, Campus Luebeck, Germany. jan.weichert@uk-sh.de
authors.forename: Jan
authors.initials: J
authors.lastname: Weichert
authors.forename: Andreas
authors.initials: A
authors.lastname: Schröer
authors.forename: Daniel Alexander
authors.initials: DA
authors.lastname: Beyer
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Irina
authors.initials: I
authors.lastname: Stefanova
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; D003635:De Lange Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D018797:Cell Cycle Proteins; D018389:Codon, Nonsense; C487465:NIPBL protein, human; D011506:Proteins