Nicoletta Villa and Angela Bentivegna contributed equally to this work.
Article first published online: 13 MAY 2011
Copyright © 2011 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 6, pages 1425–1431, June 2011
How to Cite
Villa, N., Bentivegna, A., Ertel, A., Redaelli, S., Colombo, C., Nacinovich, R., Broggi, F., Lissoni, S., Bungaro, S., Addya, S., Fortina, P. and Dalprà, L. (2011), A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. Am. J. Med. Genet., 155: 1425–1431. doi: 10.1002/ajmg.a.34010
How to Cite this Article: Villa N, Bentivegna A, Ertel A, Redaelli S, Colombo C, Nacinovich R, Broggi F, Lissoni S, Bungaro S, Addya S, Fortina P, Dalprà L. 2011. A de novo supernumerary genomic discontinuous ring chromosome 21 in a child with mild intellectual disability. Am J Med Genet Part A 155:1425–1431.
- Issue published online: 20 MAY 2011
- Article first published online: 13 MAY 2011
- Manuscript Accepted: 17 FEB 2011
- Manuscript Received: 12 NOV 2010
- Fondazione Cariplo
Additional supporting information may be found in the online version of this article.
|AJMA_34010_sm_Suppl-Fig1.doc||92K||Fig. 1: The family pedigree shows two relatives of the father with Down syndrome. The proband is arrowed.|
|AJMA_34010_sm_Suppl-Fig2.doc||72K||Fig. 2: (a): BAC clones employed for the characterization of the supernumerary SMC, ordered from cen to tel on the chromosome 21 ideogram. (b) The breakpoint localization on r(21) was inferred by FISH results, since it showed hybridization for both RP11-97K13 and RP11-78J18 (+) but no signals for RP11-141K11 (-), while for RP11-242C13 there is no clear interpretation since it showed a weak hybridation signal or no signals (+/-).|
|AJMA_34010_sm_Suppl-Fig3.doc||171K||Fig. 3: Chromosome 21 copy number variation. Whole copy number state is shown for the mother, father and proband samples. Blue boxes highlight copy gain segments in the proband. Previously annotated gains (blue) and losses (red) from the database of genomic variants (DGV) are displayed along the chromosome axis in addition to RefSeq genes and the Affymetrix cytogenetics array marker coverage.|
|AJMA_34010_sm_Suppl-Fig4.doc||57K||Fig. 4: Genotype-phenotype correlation in14 cases of sSMC derived from chromosome 21 (13 reviewed from literature and one from this work). X-axis represents position along the HSA21q; Y-axis represents the cases of Supplementary Table II. The gene density of chromosome 21 from Ensamble (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?r=21) is shown above the ideogram. Red bars represents regions of partial trisomy 21, uncertain regions are indicated by a question mark, while mosaic cases by shaded red bars.|
|AJMA_34010_sm_Suppl-Table1.doc||107K||Table I: Evidence for paternal origin by SNP genotyping. Genotypes calls were determined in the amplified regions, using the Standardized Centered Allelic Ratio (SCAR) computed by the ChAS softwar. Markers locations where one parent has the homozygous “A” allele and the other parent has the homozygous “B” allele provide evidence to determine the source of the extra copy in the proband.|
|AJMA_34010_sm_Suppl-Table2.doc||52K||Table II: sSMC derived from chromosome 21: Review of literature.|
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