Under-ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference81 articles.
1. Prenatal diagnosis of a homologous Robertsonian translocation involving chromosome 15
2. Cytogenetic, FISH and DNA studies in 11 individuals from a family with two siblings with dup(21q) Down syndrome
3. FUSION OF HOMOLOGOUS CHROMOSOMES (15q15q) AS CAUSE OF RECURRENT ABORTION
4. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
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1. Detection of paternal origin of fetal de novo rea(21q;21q) down syndrome in a pregnancy of a young woman associated with an abnormal first-trimester maternal serum screening result;Taiwanese Journal of Obstetrics and Gynecology;2022-03
2. Factors affecting clinical manifestation of chromosomal imbalance in carriers of segmental autosomal mosaicism: differential impact of gender;Journal of Applied Genetics;2022-01-01
3. Resolving Paradoxes of Robertsonian Translocations;Cytogenetics - Past, Present and Further Perspectives;2019-05-10
4. Homologous Robertsonian Translocations: Spectrum, Sex Ratios, and Reproductive Risks;Russian Journal of Genetics;2019-01
5. Are de novo rea(21;21) chromosomes really de novo?;Clinical Case Reports;2015-08-26
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