10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences
Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on...
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Published in | Cytogenetic and genome research Vol. 124; no. 1; pp. 102 - 105 |
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Main Authors | , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
Basel, Switzerland
S. Karger AG
01.01.2009
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Online Access | Get full text |
ISSN | 1424-8581 1424-859X 1424-859X |
DOI | 10.1159/000200094 |
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Abstract | Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. |
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AbstractList | Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. Copyright copyright 2009 S. Karger AG, Basel Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences.Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. Directly transmitted unbalanced chromosomal abnormalities (UBCA) or euchromatic variants (EV) were recently reported for >50 euchromatic regions of almost all human autosomes. UBCA and EV are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. Here we report on partial trisomies of chromosome 10 within the pericentromeric region which were detected by standard G banding. Those were referred for further delineation of the size of these duplicated regions for molecular cytogenetics and/or array-CGH. Partial trisomies of chromosome 10 in the pericentromeric region were identified prenatally in seven cases. A maximum of three copies of the region from 10p12.1 to 10q11.22 was observed in all cases without apparent clinical abnormalities. The imbalances were either caused by a direct duplication in one familial case or by de novo small supernumerary marker chromosomes (sSMC). Thus, we report a yet unrecognized chromosomal region subject to UBCA detected in seven unrelated cases. To the best of our knowledge, this is the first report of a UBCA in the pericentromeric region of chromosome 10 that is not correlated with any clinical consequences. Copyright © 2009 S. Karger AG, Basel [PUBLICATION ABSTRACT] |
Author | Cai, W.W. Patsalis, P.C. Weise, A. Klaschka, V. Hinreiner, S. Bhatt, S. Stumm, M. Meins, M. Liehr, T. Mrasek, K. Wegner, R.D. Ewers, E. Hickmann, P. Kosyakova, N. Morlot, S. Cheung, S.W. |
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Cites_doi | 10.1093%2Fhmg%2F8.2.205 10.1136%2Fjmg.2004.026955 10.1038%2Fng1416 10.1007%2Fs00439-003-1016-3 10.1007%2Fs004390100459 10.1007%2FBF03194675 |
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References | Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42:609-629 (2005).1606156010.1136%2Fjmg.2004.026955 Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al: Detection of large-scale variation in the human genome. Nat Genet 36:949-951 (2004).1528678910.1038%2Fng1416 Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, et al: Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet 48:167-175 (2007).1749535110.1007%2FBF03194675 Barber JC: Unbalanced chromosome abnormality (UBCA) Chart. https://www.som.soton.ac.uk/research/Geneticsdiv/anomaly%20re- gister/default.htm (2008). Liehr T: Small supernumerary marker chromosomes (sSMC). http://www.med.uni-jena.de/fish/sSMC/00START.htm (2008). Jackson MS, Rocchi M, Thompson G, Hearn T, Crosier M, et al: Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet 8:205-215 (1999).993132810.1093%2Fhmg%2F8.2.205 Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, et al: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204 (2001).1135463010.1007%2Fs004390100459 Starke H, Nietzel A, Weise A, Heller A, Mrasek K, et al: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67 (2003).1368036210.1007%2Fs00439-003-1016-3 ref2 ref1 ref4 ref3 ref6 ref5 |
References_xml | – reference: Pietrzak J, Mrasek K, Obersztyn E, Stankiewicz P, Kosyakova N, et al: Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8, 18, and 21 in three patients. J Appl Genet 48:167-175 (2007).1749535110.1007%2FBF03194675 – reference: Barber JC: Directly transmitted unbalanced chromosome abnormalities and euchromatic variants. J Med Genet 42:609-629 (2005).1606156010.1136%2Fjmg.2004.026955 – reference: Nietzel A, Rocchi M, Starke H, Heller A, Fiedler W, et al: A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet 108:199-204 (2001).1135463010.1007%2Fs004390100459 – reference: Barber JC: Unbalanced chromosome abnormality (UBCA) Chart. https://www.som.soton.ac.uk/research/Geneticsdiv/anomaly%20re- gister/default.htm (2008). – reference: Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, et al: Detection of large-scale variation in the human genome. Nat Genet 36:949-951 (2004).1528678910.1038%2Fng1416 – reference: Liehr T: Small supernumerary marker chromosomes (sSMC). http://www.med.uni-jena.de/fish/sSMC/00START.htm (2008). – reference: Starke H, Nietzel A, Weise A, Heller A, Mrasek K, et al: Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67 (2003).1368036210.1007%2Fs00439-003-1016-3 – reference: Jackson MS, Rocchi M, Thompson G, Hearn T, Crosier M, et al: Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet 8:205-215 (1999).993132810.1093%2Fhmg%2F8.2.205 – ident: ref3 doi: 10.1093%2Fhmg%2F8.2.205 – ident: ref1 doi: 10.1136%2Fjmg.2004.026955 – ident: ref2 doi: 10.1038%2Fng1416 – ident: ref6 doi: 10.1007%2Fs00439-003-1016-3 – ident: ref4 doi: 10.1007%2Fs004390100459 – ident: ref5 doi: 10.1007%2FBF03194675 |
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SubjectTerms | Amniocentesis Chromosome Aberrations Chromosome Banding Chromosome Breakage Chromosomes, Human, Pair 10 Comparative Genomic Hybridization Female Gene Dosage Gene Duplication Genetic Markers Humans In Situ Hybridization, Fluorescence Karyotyping Male Microdissection Oligonucleotide Array Sequence Analysis Phenotype Physical Chromosome Mapping Prenatal Diagnosis Short Report |
Title | 10p11.2 to 10q11.2 is a yet unreported region leading to unbalanced chromosomal abnormalities without phenotypic consequences |
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