Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results-Reference-Cited by-同舟云学术

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Deletion rescue resulting in segmental homozygosity: A mechanism underlying discordant NIPT results

Published:2020-08-15 Issue:11 Volume:182 Page:2666-2670
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Caldwell Samantha¹^ORCID,Sagaser Katelynn²,Nelson Zoe³,Frey Jennifer⁴,Wardrop Jenna¹,Boomer Theresa¹,McCullough Ron¹,Schwartz Stuart⁵

Affiliation:

1. Sequenom Laboratories San Diego California USA

2. Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics Johns Hopkins University School of Medicine Baltimore Maryland USA

3. Mount Sinai West Medical Center New York New York USA

4. Division of Medical Genetics Henry Ford Health System Detroit Michigan USA

5. Cytogenetics Laboratory Laboratory Corporation of America® Holdings Research Triangle Park North Carolina USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61801

Reference11 articles.

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

2. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results

3. Distribution of mosaicism in human placentae

4. ‘Deletion rescue’ by mitotic 11q uniparental disomy in a family with recurrence of 11q deletion Jacobsen syndrome

5. Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity

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1. Prenatal Screening for Microdeletions and Rare Autosomal Aneuploidies;Clinical Obstetrics & Gynecology;2023-07-13

2. Imprinting disorders;Nature Reviews Disease Primers;2023-06-29

3. Prenatal Diagnosis of Uniparental Disomy in Cases of Rare Autosomal Trisomies Detected Using Noninvasive Prenatal Test: A Case of Prader–Willi Syndrome;Diagnostics;2023-02-04

4. The embryo battle against adverse genomes: Are de novo terminal deletions the rescue of unfavorable zygotic imbalances?;European Journal of Medical Genetics;2022-08

5. Noninvasive prenatal testing suggesting an abnormality in chromosome 15 confirmed to be a case of Prader–Willi syndrome caused by trisomy rescue in the neonatal period;Journal of Obstetrics and Gynaecology Research;2022-03-23

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