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 inCytogenetic and genome research Vol. 124; no. 1; pp. 102 - 105
Main Authors Liehr, T., Stumm, M., Wegner, R.D., Bhatt, S., Hickmann, P., Patsalis, P.C., Meins, M., Morlot, S., Klaschka, V., Ewers, E., Hinreiner, S., Mrasek, K., Kosyakova, N., Cai, W.W., Cheung, S.W., Weise, A.
Format Journal Article
LanguageEnglish
Published Basel, Switzerland S. Karger AG 01.01.2009
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ISSN1424-8581
1424-859X
1424-859X
DOI10.1159/000200094

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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.
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
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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
URI https://karger.com/doi/10.1159/000200094
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