The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
Complex Inheritance Pattern Resembling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia–Absent Radius Syndrome
Open accessAbstract
Thrombocytopenia-absent radius (TAR) syndrome is characterized by hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in the presence of both thumbs. Other frequent associations are congenital heart disease and a high incidence of cow's milk intolerance. Evidence for autosomal recessive inheritance comes from families with several affected individuals born to unaffected parents, but several other observations argue for a more complex pattern of inheritance. In this study, we describe a common interstitial microdeletion of 200 kb on chromosome 1q21.1 in all 30 investigated patients with TAR syndrome, detected by microarray-based comparative genomic hybridization. Analysis of the parents revealed that this deletion occurred de novo in 25% of affected individuals. Intriguingly, inheritance of the deletion along the maternal line as well as the paternal line was observed. The absence of this deletion in a cohort of control individuals argues for a specific role played by the microdeletion in the pathogenesis of TAR syndrome. We hypothesize that TAR syndrome is associated with a deletion on chromosome 1q21.1 but that the phenotype develops only in the presence of an additional as-yet-unknown modifier (mTAR).
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“The first is a deletion at 1q21.1 reported in TAR syndrome37”
From De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia (2012) · cites this paper as [37]
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Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990
Burnside, R. D. (2015) · Cytogenetic and Genome Research · doi:10.1159/000438708 · Cited by 1,964
Chromosome Abnormalities and Genetic Counseling
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Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804
Metadata
- Authors
- Klopocki, E., Schulze, H., Strauß, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., König, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., & Mundlos, S.
- Affiliations
- Charité – Universitätsmedizin Berlin (DE)
- University of British Columbia (CA)
- Bristol Royal Hospital for Children (GB)
- Katholisches Kinderkrankenhaus Wilhelmstift (DE)
- University Hospital Frankfurt (DE)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Mundlos, Stefan
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-02
- Volume
- 80
- Issue
- 2
- Pages
- 232-240
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1785342
- OpenAlex
- W2001475328
- Cited by
- 360
- References
- 42
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 5 · 2023: 9 · 2022: 10 · 2021: 16 · 2020: 9 · 2019: 19 · 2018: 9 · 2017: 15 · 2016: 6 · 2015: 22 · 2014: 17 · 2013: 27 · 2012: 30
- FWCI
- 14.70
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Wellcome Trust
- Deutsche Forschungsgemeinschaft
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Hematology › Platelet Disorders and Treatments
- Keywords
- thrombocytopenia-absent radius syndrome, autosomal recessive inheritance, radial aplasia, de novo deletion, congenital heart disease, cow's milk intolerance
- MeSH terms
- Adolescent, Adult, Child, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 1, Female, Humans, Infant, Male, Middle Aged, Radius, Syndrome, Thrombocytopenia, Inheritance Patterns
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