Stable ring chromosome 21: Molecular and clinical definition of the lesion
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
1. Gene Encoding the β Subunit of S100 Protein Is on Chromosome 21: Implications for Down Syndrome
2. Specificity versus nonspecificity in the pathogenesis of aneuploid phenotypes
3. Analysis of human chromosome 21: correlation of physical and cytogenetic maps; gene and CpG island distributions.
4. Confirmation of assignment of the human α1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3
5. Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.
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1. Diagnostic Methods for Ring Chromosomes;Human Ring Chromosomes;2024
2. Molecular characterization of de novo ring chromosome 21 in a child with seizures, growth retardation, and multiple congenital anomalies;Journal of Genetics;2023-08-30
3. Prenatal diagnosis and molecular cytogenetic characterization of mosaic ring chromosome 21 associated with low PAPP-A and low PlGF in the first-trimester maternal serum screening;Taiwanese Journal of Obstetrics and Gynecology;2022-03
4. Prenatal diagnosis and molecular cytogenetic characterization of a pure ring chromosome 21 with a 4.657-Mb 21q22.3 deletion;Taiwanese Journal of Obstetrics and Gynecology;2021-01
5. Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report;Biomedical Reports;2019-05-13
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