Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies

BACKGROUND: Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal c...

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Autores principales: van der Veken, Lars T, Dieleman, Marianne MJ, Douben, Hannie, van de Brug, Judith C, van de Graaf, Raoul, Hoogeboom, A Jeannette M, Poddighe, Pino J, de Klein, Annelies
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909946/
https://www.ncbi.nlm.nih.gov/pubmed/20618949
http://dx.doi.org/10.1186/1755-8166-3-13
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author van der Veken, Lars T
Dieleman, Marianne MJ
Douben, Hannie
van de Brug, Judith C
van de Graaf, Raoul
Hoogeboom, A Jeannette M
Poddighe, Pino J
de Klein, Annelies
author_facet van der Veken, Lars T
Dieleman, Marianne MJ
Douben, Hannie
van de Brug, Judith C
van de Graaf, Raoul
Hoogeboom, A Jeannette M
Poddighe, Pino J
de Klein, Annelies
author_sort van der Veken, Lars T
collection PubMed
description BACKGROUND: Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. RESULTS: We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18) chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. CONCLUSIONS: We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11.
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spelling pubmed-29099462010-07-27 Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies van der Veken, Lars T Dieleman, Marianne MJ Douben, Hannie van de Brug, Judith C van de Graaf, Raoul Hoogeboom, A Jeannette M Poddighe, Pino J de Klein, Annelies Mol Cytogenet Case Report BACKGROUND: Several cases have been reported of patients with a ring chromosome 18 replacing one of the normal chromosomes 18. Less common are patients with a supernumerary ring chromosomes 18. High resolution whole genome examination in patients with multiple congenital abnormalities might reveal cytogenetic abnormalities of an unexpected complexity. RESULTS: We report a 24 years old male patient with lower spinal anomalies, hypospadia, bifid scrotum, cryptorchism, anal atresia, kidney stones, urethra anomalies, radial dysplasia, and a hypoplastic thumb. Some of the anomalies overlap with the VACTERL association. Chromosome analysis of cultured peripheral blood lymphocytes revealed an additional ring chromosome in 13% of the metaphases. Both parents had a normal karyotype, demonstrating the de novo origin of this ring chromosome. FISH analysis using whole chromosome paints showed that the additional chromosomal material was derived from chromosome 18. Chromosome analysis of cultured fibroblasts revealed only one cell with the supernumerary ring chromosome in the 400 analyzed. To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. The array results indicated a 5 Mb gain of the pericentromeric region of chromosome 18q10-q11.2. FISH analysis using BAC-probes located in the region indicated the presence of 6 signals on the r(18) chromosome. In addition, microsatellite analysis demonstrated that the unique supernumerary ring chromosome was paternally derived and both normal copies showed biparental disomy. CONCLUSIONS: We report on an adult patient with multiple congenital abnormalities who had in 13% of his cells a unique supernumerary ring chromosome 18 that was composed of 6 copies of the 5 Mb gene rich region of 18q11. BioMed Central 2010-07-09 /pmc/articles/PMC2909946/ /pubmed/20618949 http://dx.doi.org/10.1186/1755-8166-3-13 Text en Copyright ©2010 van der Veken et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
van der Veken, Lars T
Dieleman, Marianne MJ
Douben, Hannie
van de Brug, Judith C
van de Graaf, Raoul
Hoogeboom, A Jeannette M
Poddighe, Pino J
de Klein, Annelies
Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title_full Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title_fullStr Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title_full_unstemmed Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title_short Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
title_sort low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2909946/
https://www.ncbi.nlm.nih.gov/pubmed/20618949
http://dx.doi.org/10.1186/1755-8166-3-13
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