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Your search keyword '"Xq11.2 deletion"' showing total 5 results
Start Over Descriptor "Xq11.2 deletion"
5 results on '"Xq11.2 deletion"'

1. Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' ZC4H2 gene partial deletion

Author

Charlotte Deneufbourg, Armelle Duquenne, Jean‐Marc Biard, and Yves Sznajer

Subjects
arthrogryposis multiplex congenita, Wieacker‐Wolff syndrome, Xq11.2 deletion, ZC4H2 gene, Medicine, Medicine (General), R5-920
Abstract

Abstract Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.

Published
2021
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2. Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a "de novo" ZC4H2 gene partial deletion.

Author

Deneufbourg, Charlotte, Duquenne, Armelle, Biard, Jean‐Marc, and Sznajer, Yves

Subjects
*PHENOTYPES, *ARTHROGRYPOSIS, *FETAL ultrasonic imaging, *GENETIC counseling, *SYNDROMES
Abstract

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
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3. Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' gene partial deletion.

Author

UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre labio-palatin Albert de Coninck, UCL - (SLuc) Service d'obstétrique, Deneufbourg, Charlotte, Duquenne, Armelle, Biard, Jean-Marc, Sznajer, Yves, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre labio-palatin Albert de Coninck, UCL - (SLuc) Service d'obstétrique, Deneufbourg, Charlotte, Duquenne, Armelle, Biard, Jean-Marc, and Sznajer, Yves

Abstract

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for gene sequencing diagnostic for Wieacker-Wolff syndrome.

Published
2021

4. Wieacker‐Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' ZC4H2 gene partial deletion

Author

Yves Sznajer, Armelle Duquenne, Charlotte Deneufbourg, and Jean-Marc Biard

Subjects
Arthrogryposis, Genetics, Medicine (General), Fetus, Arthrogryposis multiplex congenita, business.industry, Genetic counseling, Case Report, General Medicine, Phenotype, DNA sequencing, ZC4H2 gene, Wieacker‐Wolff syndrome, R5-920, arthrogryposis multiplex congenita, Medicine, Xq11.2 deletion, medicine.symptom, business, WIEACKER-WOLFF SYNDROME, Gene
Abstract

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for ZC4H2 gene sequencing diagnostic for Wieacker‐Wolff syndrome.

Published
2021
Full Text
View/download PDF

5. Wieacker-Wolff syndrome, a distinctive phenotype of arthrogryposis multiplex congenita caused by a 'de novo' gene partial deletion

Author

Deneufbourg, Charlotte, Duquenne, Armelle, Biard, Jean-Marc, Sznajer, Yves, UCL - (SLuc) Centre de référence neuromusculaire, UCL - (SLuc) Service d'oto-rhino-laryngologie, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Centre labio-palatin Albert de Coninck, and UCL - (SLuc) Service d'obstétrique

Subjects
ZC4H2 gene, Wieacker‐Wolff syndrome, arthrogryposis multiplex congenita, Xq11.2 deletion
Abstract

Unusual fetal arthrogryposis on ultrasound should draw attention to look for additional lower limb anomalies. Precise genetic counseling may be obtained from deletion on Xq11.2 as for gene sequencing diagnostic for Wieacker-Wolff syndrome.

Published
2021

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