Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction
Abstract Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosoma...
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doaj-84c97e1f32fb43759434f5e53211c1a62020-11-24T23:44:14ZengBMCMolecular Cytogenetics1755-81662017-07-011011710.1186/s13039-017-0329-1Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunctionSandra Chantot-Bastaraud0Svea Stratmann1Frédéric Brioude2Matthias Begemann3Miriam Elbracht4Luitgard Graul-Neumann5Madeleine Harbison6Irène Netchine7Thomas Eggermann8INSERM, UMR_S 938, CDR Saint-AntoineInstitute of Human Genetics, RWTH University Hospital AachenINSERM, UMR_S 938, CDR Saint-AntoineInstitute of Human Genetics, RWTH University Hospital AachenInstitute of Human Genetics, RWTH University Hospital AachenInstitute of Human Genetics, Charité University HospitalDepartment of Pediatrics, Icahn School of Medicine at Mount SinaiINSERM, UMR_S 938, CDR Saint-AntoineInstitute of Human Genetics, RWTH University Hospital AachenAbstract Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying trisomy 7 formation mechanisms. Results A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation.http://link.springer.com/article/10.1186/s13039-017-0329-1Maternal uniparental Disomy 7Formation mechanismChromosome 7Trisomic rescue |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Sandra Chantot-Bastaraud Svea Stratmann Frédéric Brioude Matthias Begemann Miriam Elbracht Luitgard Graul-Neumann Madeleine Harbison Irène Netchine Thomas Eggermann |
spellingShingle |
Sandra Chantot-Bastaraud Svea Stratmann Frédéric Brioude Matthias Begemann Miriam Elbracht Luitgard Graul-Neumann Madeleine Harbison Irène Netchine Thomas Eggermann Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction Molecular Cytogenetics Maternal uniparental Disomy 7 Formation mechanism Chromosome 7 Trisomic rescue |
author_facet |
Sandra Chantot-Bastaraud Svea Stratmann Frédéric Brioude Matthias Begemann Miriam Elbracht Luitgard Graul-Neumann Madeleine Harbison Irène Netchine Thomas Eggermann |
author_sort |
Sandra Chantot-Bastaraud |
title |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction |
title_short |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction |
title_full |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction |
title_fullStr |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction |
title_full_unstemmed |
Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction |
title_sort |
formation of upd(7)mat by trisomic rescue: snp array typing provides new insights in chromosomal nondisjunction |
publisher |
BMC |
series |
Molecular Cytogenetics |
issn |
1755-8166 |
publishDate |
2017-07-01 |
description |
Abstract Background Maternal uniparental disomy (UPD) of chromosome 7 (upd(7)mat) accounts for approximately 10% of patients with Silver-Russell syndrome (SRS). For upd(7)mat and trisomy 7, a significant number of mechanisms have been proposed to explain the postzygotic formation of these chromosomal compositions, but all have been based on as small number of cases. To obtain the ratio of isodisomy and heterodisomy in UPDs (hUPD, iUPD) and to determine the underlying formation mechanisms, we analysed a large cohort of upd(7)mat patients (n = 73) by SNP array typing. Based on these data, we discuss the UPDs and their underlying trisomy 7 formation mechanisms. Results A whole chromosome 7 maternal iUPD was confirmed in 28.8%, a mixture or complete maternal hUPD in 71.2% of patients. Conclusions We could demonstrate that nondisjunction mechanism affecting chromosome 7 are similar to that of the chromosomes more frequently involved in trisomy (and/or UPD), and that mechanisms other than trisomic rescue have a lower significance than previously suspected. Furthermore, we suggest SNP array typing for future parent- and cell-stage-of origin studies in human aneuploidies as they allow the definite classification of trisomies and UPDs, and provide information on recombinational events and their suggested association with aneuploidy formation. |
topic |
Maternal uniparental Disomy 7 Formation mechanism Chromosome 7 Trisomic rescue |
url |
http://link.springer.com/article/10.1186/s13039-017-0329-1 |
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