Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Nehir Edibe Kurtas; Luciano Xumerle; Lorena Leonardelli; Massimo Delledonne; Alfredo Brusco; Krystyna Chrzanowska; Albert Schinzel; Daniela Larizza; Silvana Guerneri; Federica Natacci; Maria Clara Bonaglia; Paolo Reho; Emmanouil Manolakos; Teresa Mattina; Fiorenza Soli; Aldesia Provenzano; Ahmed H. Al-Rikabi; Edoardo Errichiello; Lusine Nazaryan-Petersen; Sabrina Giglio; Niels Tommerup; Thomas Liehr; Orsetta Zuffardi

doi:10.1002/humu.23683

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Nehir Edibe Kurtas^*, Luciano Xumerle, Lorena Leonardelli, Massimo Delledonne, Alfredo Brusco, Krystyna Chrzanowska, Albert Schinzel, Daniela Larizza, Silvana Guerneri, Federica Natacci, Maria Clara Bonaglia, Paolo Reho, Emmanouil Manolakos, Teresa Mattina, Fiorenza Soli, Aldesia Provenzano, Ahmed H. Al-Rikabi, Edoardo Errichiello, Lusine Nazaryan-Petersen, Sabrina GiglioNiels Tommerup, Thomas Liehr, Orsetta Zuffardi

^*Corresponding author af dette arbejde

Medical Genetics Program

12 Citationer (Scopus)

Abstract

We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.

Originalsprog	Engelsk
Tidsskrift	Human Mutation
Vol/bind	401
Udgave nummer	2
Sider (fra-til)	193-200
ISSN	1059-7794
DOI	https://doi.org/10.1002/humu.23683
Status	Udgivet - 1 feb. 2019

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10.1002/humu.23683

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Kurtas, N. E., Xumerle, L., Leonardelli, L., Delledonne, M., Brusco, A., Chrzanowska, K., Schinzel, A., Larizza, D., Guerneri, S., Natacci, F., Bonaglia, M. C., Reho, P., Manolakos, E., Mattina, T., Soli, F., Provenzano, A., Al-Rikabi, A. H., Errichiello, E., Nazaryan-Petersen, L., ... Zuffardi, O. (2019). Small supernumerary marker chromosomes: A legacy of trisomy rescue? Human Mutation, 401(2), 193-200. https://doi.org/10.1002/humu.23683

Kurtas, NE, Xumerle, L, Leonardelli, L, Delledonne, M, Brusco, A, Chrzanowska, K, Schinzel, A, Larizza, D, Guerneri, S, Natacci, F, Bonaglia, MC, Reho, P, Manolakos, E, Mattina, T, Soli, F, Provenzano, A, Al-Rikabi, AH, Errichiello, E, Nazaryan-Petersen, L, Giglio, S, Tommerup, N, Liehr, T & Zuffardi, O 2019, 'Small supernumerary marker chromosomes: A legacy of trisomy rescue?', Human Mutation, bind 401, nr. 2, s. 193-200. https://doi.org/10.1002/humu.23683

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title = "Small supernumerary marker chromosomes: A legacy of trisomy rescue?",

abstract = "We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.",

keywords = "chromothripsis, evolutionary trade-off, maternal meiotic nondisjunction, small supernumerary marker chromosome (sSMC), whole genome paired-end sequencing (WGS)",

author = "Kurtas, {Nehir Edibe} and Luciano Xumerle and Lorena Leonardelli and Massimo Delledonne and Alfredo Brusco and Krystyna Chrzanowska and Albert Schinzel and Daniela Larizza and Silvana Guerneri and Federica Natacci and Bonaglia, {Maria Clara} and Paolo Reho and Emmanouil Manolakos and Teresa Mattina and Fiorenza Soli and Aldesia Provenzano and Al-Rikabi, {Ahmed H.} and Edoardo Errichiello and Lusine Nazaryan-Petersen and Sabrina Giglio and Niels Tommerup and Thomas Liehr and Orsetta Zuffardi",

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doi = "10.1002/humu.23683",

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T1 - Small supernumerary marker chromosomes

T2 - A legacy of trisomy rescue?

AU - Kurtas, Nehir Edibe

AU - Xumerle, Luciano

AU - Leonardelli, Lorena

AU - Delledonne, Massimo

AU - Brusco, Alfredo

AU - Chrzanowska, Krystyna

AU - Schinzel, Albert

AU - Larizza, Daniela

AU - Guerneri, Silvana

AU - Natacci, Federica

AU - Bonaglia, Maria Clara

AU - Reho, Paolo

AU - Manolakos, Emmanouil

AU - Mattina, Teresa

AU - Soli, Fiorenza

AU - Provenzano, Aldesia

AU - Al-Rikabi, Ahmed H.

AU - Errichiello, Edoardo

AU - Nazaryan-Petersen, Lusine

AU - Giglio, Sabrina

AU - Tommerup, Niels

AU - Liehr, Thomas

AU - Zuffardi, Orsetta

PY - 2019/2/1

Y1 - 2019/2/1

N2 - We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.

AB - We studied by a whole genomic approach and trios genotyping, 12 de novo, nonrecurrent small supernumerary marker chromosomes (sSMC), detected as mosaics during pre- or postnatal diagnosis and associated with increased maternal age. Four sSMCs contained pericentromeric portions only, whereas eight had additional non-contiguous portions of the same chromosome, assembled together in a disordered fashion by repair-based mechanisms in a chromothriptic event. Maternal hetero/isodisomy was detected with a paternal origin of the sSMC in some cases, whereas in others two maternal alleles in the sSMC region and biparental haplotypes of the homologs were detected. In other cases, the homologs were biparental while the sSMC had the same haplotype of the maternally inherited chromosome. These findings strongly suggest that most sSMCs are the result of a multiple-step mechanism, initiated by maternal meiotic nondisjunction followed by postzygotic anaphase lagging of the supernumerary chromosome and its subsequent chromothripsis.

KW - chromothripsis

KW - evolutionary trade-off

KW - maternal meiotic nondisjunction

KW - small supernumerary marker chromosome (sSMC)

KW - whole genome paired-end sequencing (WGS)

U2 - 10.1002/humu.23683

DO - 10.1002/humu.23683

M3 - Journal article

C2 - 30412329

AN - SCOPUS:85056877249

SN - 1059-7794

VL - 401

SP - 193

EP - 200

JO - Human Mutation

JF - Human Mutation

IS - 2

ER -

Small supernumerary marker chromosomes: A legacy of trisomy rescue?

Abstract

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