ArticleAmerican journal of human genetics1995
Molecular mapping of 21 features associated with partial monosomy 21: involvement of the APP-SOD1 region.
Article in American journal of human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 73 citations in OpenAlex.
- Congenital Anomalies in a Neonate With Partial Monosomy of Chromosome 21 q Arm: A Case Report.Cureus · 2025Article
- A case of monosomy 21 presented with difficult tracheal intubation.JA clinical reports · 2022Article
- Ocular Phenotype Associated withGenes · 2021Article
- Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss ofMolecular syndromology · 2019Article
- Combined immunodeficiency in a patient with mosaic monosomy 21.Immunologic research · 2016Article
- Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.BMC medical genetics · 2016Review
- Double deletion of a chromosome 21 inserted in a chromosome 22 in an azoospermic patient.Clinical case reports · 2015Article
- Deletion of the App-Runx1 region in mice models human partial monosomy 21.Disease models & mechanisms · 2015Article
- Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.PLoS genetics · 2015Article
- DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson's disease.Cell death & disease · 2014Article
- Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.Neurogenetics · 2014Article
- Mosaic and partial monosomy of chromosome 21 in a case with low platelets count.Iranian journal of pediatric hematology and oncology · 2014Article
- Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients.Journal of neuropathology and experimental neurology · 2012Article
- Modeling partial monosomy for human chromosome 21q11.2-q21.1 reveals haploinsufficient genes influencing behavior and fat deposition.PloS one · 2012Article
- Bone density phenotypes in mice aneuploid for the Down syndrome critical region.American journal of medical genetics. Part A · 2011Article
- Genomic analysis of partial 21q monosomies with variable phenotypes.European journal of human genetics : EJHG · 2011Article
- Distinctive Phenotypic Abnormalities Associated with Submicroscopic 21q22 Deletion Including DYRK1A.Molecular syndromology · 2010Article
- Deficiencies in the region syntenic to human 21q22.3 cause cognitive deficits in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
- Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.European journal of human genetics : EJHG · 2009Article
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10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We compared the phenotypes, karyotypes, and molecular data for six cases of partial monosomy 21. Regions of chromosome 21, the deletion of which corresponds to particular features of monosomy 21, were thereby defined. Five such regions were identified for 21 features. Ten of the features could be assigned to the region flanked by genes APP and SOD1: six facial features, transverse palmar crease, arthrogryposis-like symptoms, hypertonia, and contribution to mental retardation. This region, covering the interface of bands 21q21-21q22.1, is 4.7-6.4 Mb long and contains the gene encoding the glutamate receptor subunit GluR5 (GRIK1).
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7611297PMC1801243W1570958704What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.