Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Jan Weichert; Andreas Schröer; Daniel Alexander Beyer; Gabriele Gillessen-Kaesbach; Irina Stefanova

doi:10.3109/14767058.2010.531312

Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Jan Weichert^*, Andreas Schröer, Daniel Alexander Beyer, Gabriele Gillessen-Kaesbach, Irina Stefanova

^*Corresponding author for this work

7 Citations (Scopus)

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.

Original language	English
Journal	Journal of Maternal-Fetal and Neonatal Medicine
Volume	24
Issue number	7
Pages (from-to)	978-982
Number of pages	5
ISSN	1476-7058
DOIs	https://doi.org/10.3109/14767058.2010.531312
Publication status	Published - 01.07.2011

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10.3109/14767058.2010.531312

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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.",

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Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation. / Weichert, Jan; Schröer, Andreas; Beyer, Daniel Alexander et al.
In: Journal of Maternal-Fetal and Neonatal Medicine, Vol. 24, No. 7, 01.07.2011, p. 978-982.

Research output: Journal Articles › Journal articles › Research › peer-review

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 - https://www.scopus.com/pages/publications/79958067880

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 -

Cornelia de Lange Syndrome: Antenatal diagnosis in two consecutive pregnancies due to rare gonadal mosaicism of NIPBL gene mutation

Abstract

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