Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl-Reference-Cited by-同舟云学术

Trisomy rescue mechanism: the case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15‐year‐old girl

Published:2016-02-02 Issue:3 Volume:4 Page:265-271
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Balbeur Samuel¹,Grisart Bernard¹,Parmentier Benoit¹,Sartenaer Daniel¹,Leonard Pierre‐Emmanuel¹,Ullmann Urielle¹,Boulanger Sébastien¹,Leroy Luc²,Ngendahayo Placide²,Lungu‐Silviu Constantin³,Lysy Philippe⁴,Maystadt Isabelle¹

Affiliation:

1. Department of Human Genetics Institut de Pathologie et de Génétique Gosselies Belgium

2. Department of Anatomo‐Pathology Institut de Pathologie et de Génétique Gosselies Belgium

3. Department of Pediatrics INDC Entité Jolimontoise Lobbes Belgium

4. Department of Pediatrics Endocrinology Cliniques Universitaires Saint‐Luc Bruxelles Belgium

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.501

Reference14 articles.

1. Maternal Uniparental Disomy 14 Syndrome Demonstrates Prader-Willi Syndrome-Like Phenotype

2. Mini-Review Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities

3. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases

4. Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis

5. Molecular Mechanisms Leading to the Phenotypic Development in Paternal and Maternal Uniparental Disomy for Chromosome 14

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Building the brain mosaic: an expanded view;Trends in Genetics;2024-09

2. Fetus Conceived via In Vitro Fertilization With Mosaic Uniparental Isodisomy and Two Balanced Translocations;Cureus;2024-06-10

3. Human embryonic genetic mosaicism and its effects on development and disease;Nature Reviews Genetics;2024-04-11

4. Analysis of copy number variations and possible candidate genes in spontaneous abortion by copy number variation sequencing;Frontiers in Endocrinology;2023-10-17

5. High-level mosaic trisomy 14 at amniocentesis in a pregnancy associated with congenital heart defects and intrauterine growth restriction on fetal ultrasound;Taiwanese Journal of Obstetrics and Gynecology;2023-07