ArticleEuropean journal of human genetics : EJHG2011
Genomic analysis of partial 21q monosomies with variable phenotypes.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed.
- Generation of Monosomy 21q Human iPS Cells by CRISPR/Cas9-Mediated Interstitial Megabase Deletion.Genes to cells : devoted to molecular & cellular mechanisms · 2025Article
- Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings.The application of clinical genetics · 2025Article
- A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report.Global medical genetics · 2023Article
- Mimicking Hypoxic-Ischemic Encephalopathy in a Newborn with 21q Deletion Originating from Ring Chromosome 21.Children (Basel, Switzerland) · 2023Article
- Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development.Diagnostics (Basel, Switzerland) · 2023Article
- ATranslational pediatrics · 2021Article
- Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.Molecular syndromology · 2020Article
- Psychiatric Disorders and Distal 21q Deletion-A Case Report.International journal of environmental research and public health · 2020Article
- Article
- 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 · 2019Article
- Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children.Case reports in genetics · 2018Article
- Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies.Molecular cytogenetics · 2018Article
- Article
- De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.American journal of human genetics · 2016Article
- Combined immunodeficiency in a patient with mosaic monosomy 21.Immunologic research · 2016Article
- Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report.Journal of medical case reports · 2016Article
- Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development.Molecular cytogenetics · 2016Article
- Dissection of partial 21q monosomy in different phenotypes: clinical and molecular characterization of five cases and review of the literature.Molecular cytogenetics · 2016Article
- Article
- Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.Clinical case reports · 2015Article
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9 authors.
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Abstract
Partial monosomy 21 was recently segregated into three regions associated with variable clinical severity. We describe 10 new patients, all examined by single nucleotide polymorphism (SNP) genotyping and G-banded karyotyping. Cohort A consisted of three patients seen in our medical genetics clinics with partial chromosome 21 monosomies. In two of these patients having terminal deletions (21q22.2-ter and 21q22.3-ter), the breakpoints differed by at least 812 Kb of sequence, containing seven RefSeq genes. A third patient had an interstitial hemizygous loss of 16.4 Mb (21q21.1-q22.11). All three patients had relatively mild phenotypes. Cohort B consisted of seven patients with partial chromosome 21 monosomies who had a greater number of dysmorphic features and some major malformations; SNP genotypes were obtained from the Coriell Genetic Cell Repository. We also collected data on partial monsomy 21 cases from the DECIPHER database. This report of 10 new cases of 21q deletion and review of a total of 36 confirms that deletion of the terminal region is associated with a mild phenotype, but suggests that deletion of regions 1 and 2 is compatible with life and have a variable phenotype perhaps relating more to other genetic and environmental variables than to genes in the interval.
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