ArticleJournal of human genetics2008
Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.
Article in Journal of human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 15 citations in OpenAlex.
- Generation and Exosomal Noncoding RNA Profiling of Down Syndrome-Specific Induced Pluripotent Stem Cells.Stem cell reviews and reports · 2026Article
- Article
- Dissection of a Down syndrome-associated trisomy to separate the gene dosage-dependent and -independent effects of an extra chromosome.Human molecular genetics · 2023Article
- Review
- Identification of regions of positive selection using Shared Genomic Segment analysis.European journal of human genetics : EJHG · 2011Article
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Only 4% of Down syndrome (DS) cases have a Robertsonian translocation (ROB). The aim of this study was to define the possible breakage area in 21p where ROB occurs. We prospectively and consecutively collected ten cases ROB DS from three medical centers. Of the ten DS children, six were de novo (60%), and four were due to paternal or maternal inheritance (40%). They consisted of four der(21q;21q), four der(14q;21q), one der(13q;21q), and one der(21q;22q). The origin of the extra chromosome 21q was maternal in five of six de novo ROB and paternal in one case. All four der(21;21) ROB DS were an isochromosome. The result of gene dosage change by real-time quantitative polymerase chain reaction (PCR) was compatible with array-comparative genomic hybridization in one case. We further used real-time PCR to detect the copy number of TPTE and BAGE2 located on 21p11 and SAMSN1 on 21q11. The ratio of copy number in 21p:21q was 1:3 in der(21q;21q) but 2:3 in der(13q;21q), der(14q;21q), and der(21q;22q). Our preliminary results demonstrated the critical breakpoint of chromosome 21 involving ROB might lie between BAGE2 and the centromere, located from 10.1 to 12.3 Mb.
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