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Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12

Davidsson, Josef LU ; Collin, Anna LU ; Oereberg, Maria and Gisselsson Nord, David LU (2008) In Clinical Genetics 73(1). p.44-49
Abstract
Supernumerary ring chromosomes (SRC) account for approximately 10% of prenatal marker chromosomes and 60% of these SRCs are associated with an abnormal phenotype of the patient carrying them. SRCs have, with few exceptions, not been characterized at the molecular genetic level. Here, we present the first case of a SRC 12 thoroughly investigated with tiling resolution array-based comparative genomic hybridization (array CGH); multicolor, centromere, subtelomeric and whole chromosome painting fluorescence in situ hybridization. In addition, to be able to correlate phenotypic manifestations with a possible pathogenetic outcome of the SRC 12, we retrospectively compared and reviewed all 14 cases of SRC 12 reported, including our present case.... (More)
Supernumerary ring chromosomes (SRC) account for approximately 10% of prenatal marker chromosomes and 60% of these SRCs are associated with an abnormal phenotype of the patient carrying them. SRCs have, with few exceptions, not been characterized at the molecular genetic level. Here, we present the first case of a SRC 12 thoroughly investigated with tiling resolution array-based comparative genomic hybridization (array CGH); multicolor, centromere, subtelomeric and whole chromosome painting fluorescence in situ hybridization. In addition, to be able to correlate phenotypic manifestations with a possible pathogenetic outcome of the SRC 12, we retrospectively compared and reviewed all 14 cases of SRC 12 reported, including our present case. Our analyses revealed that the SRC comprised 25.53-46.40 Mb of chromosome 12, a region known to harbor 47 annotated genes of which nine were of putative pathogenetic relevance. Reviewing the previously described cases of SRC 12, we could not establish any specific recurrent features associated with this type of SRC. This most probably reflects heterogeneity in break-point distribution among the reported cases, resulting in differently sized ring chromosomes and hence varying phenotypic traits of the patients. Detailed genomic evaluation, by array CGH or similar techniques may thus be of importance to predict the clinical course in individual cases. (Less)
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
FISH, genotype-phenotype correlation, ring chromosome 12, array CGH
in
Clinical Genetics
volume
73
issue
1
pages
44 - 49
publisher
Wiley-Blackwell
external identifiers
  • wos:000251627800007
  • scopus:37249051723
ISSN
0009-9163
DOI
10.1111/j.1399-0004.2007.00917.x
language
English
LU publication?
yes
id
16a17cae-401c-4a03-9924-5054743d9d83 (old id 966160)
alternative location
http://www3.interscience.wiley.com/journal/119389167/abstract
date added to LUP
2008-08-20 13:46:37
date last changed
2017-01-01 04:59:08
@article{16a17cae-401c-4a03-9924-5054743d9d83,
  abstract     = {Supernumerary ring chromosomes (SRC) account for approximately 10% of prenatal marker chromosomes and 60% of these SRCs are associated with an abnormal phenotype of the patient carrying them. SRCs have, with few exceptions, not been characterized at the molecular genetic level. Here, we present the first case of a SRC 12 thoroughly investigated with tiling resolution array-based comparative genomic hybridization (array CGH); multicolor, centromere, subtelomeric and whole chromosome painting fluorescence in situ hybridization. In addition, to be able to correlate phenotypic manifestations with a possible pathogenetic outcome of the SRC 12, we retrospectively compared and reviewed all 14 cases of SRC 12 reported, including our present case. Our analyses revealed that the SRC comprised 25.53-46.40 Mb of chromosome 12, a region known to harbor 47 annotated genes of which nine were of putative pathogenetic relevance. Reviewing the previously described cases of SRC 12, we could not establish any specific recurrent features associated with this type of SRC. This most probably reflects heterogeneity in break-point distribution among the reported cases, resulting in differently sized ring chromosomes and hence varying phenotypic traits of the patients. Detailed genomic evaluation, by array CGH or similar techniques may thus be of importance to predict the clinical course in individual cases.},
  author       = {Davidsson, Josef and Collin, Anna and Oereberg, Maria and Gisselsson Nord, David},
  issn         = {0009-9163},
  keyword      = {FISH,genotype-phenotype correlation,ring chromosome 12,array CGH},
  language     = {eng},
  number       = {1},
  pages        = {44--49},
  publisher    = {Wiley-Blackwell},
  series       = {Clinical Genetics},
  title        = {Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12},
  url          = {http://dx.doi.org/10.1111/j.1399-0004.2007.00917.x},
  volume       = {73},
  year         = {2008},
}