Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications-Reference-Cited by-同舟云学术

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Prenatal presentation in two fetuses with features of Beckwith Wiedemann syndrome—An unexpected diagnosis of androgenetic chimera and its clinical implications

Published:2022-02-18 Issue:5 Volume:188 Page:1562-1567
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Yu Pui‐Tak¹^ORCID,Shu Wendy²,Mok Sau‐Lan³,Hui Pui‐Wah⁴,Chan Lin‐Wai²,Kwok Ka‐Yin⁵,Chan Kelvin Y. K.⁶^ORCID,Lo Tsz‐Kin³,Chung Brian H. Y.⁷^ORCID,Luk Ho‐Ming¹^ORCID,Kan Anita S. Y.⁴⁶^ORCID

Affiliation:

1. Clinical Genetic Service Department of Health Hong Kong

2. Department of Obstetrics and Gynaecology Pamela Youde Nethersole Eastern Hospital Hong Kong

3. Department of Obstetrics and Gynaecology Princess Margaret Hospital Hong Kong

4. Department of Obstetrics and Gynaecology Queen Mary Hospital Hong Kong

5. Department of Obstetrics and Gynaecology Prince of Wales Hospital Hong Kong

6. Prenatal Diagnostic Laboratory Tsan Yuk Hospital Hong Kong

7. Department of Paediatrics & Adolescent Medicine The University of Hong Kong Hong Kong

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62665

Reference17 articles.

1. A genomic view of mosaicism and human disease

2. Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism‐array analysis

3. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

4. Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith–Wiedemann syndrome and ovarian steroid cell tumour

5. Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues

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1. Prenatal detection of mosaicism for a genome wide uniparental disomy cell line in a cohort of patients: Implications and outcomes;Prenatal Diagnosis;2024-04

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