Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference28 articles.
1. Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15
2. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
3. Identification of Uniparental Disomy Following Prenatal Detection of Robertsonian Translocations and Isochromosomes
4. Prenatal diagnosis of a fetus with a homologous Robertsonian translocation of chromosomes 15
5. Paternal uniparental disomy for chromosome 14: A case report and review
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1. Genetic counseling of mosaicism for balanced or unbalanced translocation with a normal cell line at amniocentesis;Taiwanese Journal of Obstetrics and Gynecology;2024-09
2. A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation;Frontiers in Pediatrics;2020-03-10
3. The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans;BioMed Research International;2019-04-02
4. Uniparental disomy and prenatal phenotype;Medicine;2017-11
5. Robertsonian Translocations: An Overview of 872 Robertsonian Translocations Identified in a Diagnostic Laboratory in China;PLOS ONE;2015-05-01
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