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Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome)
BACKGROUND: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancyt...
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Formato: | Texto |
Lenguaje: | English |
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BioMed Central
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799424/ https://www.ncbi.nlm.nih.gov/pubmed/20003197 http://dx.doi.org/10.1186/1755-8166-2-26 |
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author | Manolakos, Emmanouil Orru, Sandro Neroutsou, Rosita Kefalas, Konstantinos Louizou, Eirini Papoulidis, Ioannis Thomaidis, Loretta Peitsidis, Panagiotis Sotiriou, Sotirios Kitsos, George Tsoplou, Panagiota Petersen, Michael B Metaxotou, Aikaterini |
author_facet | Manolakos, Emmanouil Orru, Sandro Neroutsou, Rosita Kefalas, Konstantinos Louizou, Eirini Papoulidis, Ioannis Thomaidis, Loretta Peitsidis, Panagiotis Sotiriou, Sotirios Kitsos, George Tsoplou, Panagiota Petersen, Michael B Metaxotou, Aikaterini |
author_sort | Manolakos, Emmanouil |
collection | PubMed |
description | BACKGROUND: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS. RESULTS: We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result. DISCUSSION: Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS. |
format | Text |
id | pubmed-2799424 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2009 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-27994242009-12-30 Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) Manolakos, Emmanouil Orru, Sandro Neroutsou, Rosita Kefalas, Konstantinos Louizou, Eirini Papoulidis, Ioannis Thomaidis, Loretta Peitsidis, Panagiotis Sotiriou, Sotirios Kitsos, George Tsoplou, Panagiota Petersen, Michael B Metaxotou, Aikaterini Mol Cytogenet Case report BACKGROUND: Jacobsen syndrome (JBS) is a rare chromosomal disorder leading to multiple physical and mental impairment. This syndrome is caused by a partial deletion of chromosome 11, especially subband 11q24.1 has been proven to be involved. Clinical cases may easily escape diagnosis, however pancytopenia or thrombocytopenia may be indicative for JBS. RESULTS: We report a 7.5 years old boy presenting with speech development delay, hearing impairment and abnormal platelet function. High resolution SNP oligonucleotide microarray analysis revealed a terminal deletion of 11.4 Mb in size, in the area 11q24.1-11qter. This specific deletion encompasses around 170 genes. Other molecular techniques such as fluorescence in situ hybridization and multiplex ligation-dependent probe amplification were used to confirm the array-result. DISCUSSION: Our results suggest that the identification and detailed analysis of similar patients with abnormal platelet function and otherwise mild clinical features will contribute to identification of more patients with 11q deletion and JBS. BioMed Central 2009-12-09 /pmc/articles/PMC2799424/ /pubmed/20003197 http://dx.doi.org/10.1186/1755-8166-2-26 Text en Copyright ©2009 Manolakos 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 Manolakos, Emmanouil Orru, Sandro Neroutsou, Rosita Kefalas, Konstantinos Louizou, Eirini Papoulidis, Ioannis Thomaidis, Loretta Peitsidis, Panagiotis Sotiriou, Sotirios Kitsos, George Tsoplou, Panagiota Petersen, Michael B Metaxotou, Aikaterini Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title_full | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title_fullStr | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title_full_unstemmed | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title_short | Detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (Jacobsen syndrome) |
title_sort | detailed molecular and clinical investigation of a child with a partial deletion of chromosome 11 (jacobsen syndrome) |
topic | Case report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799424/ https://www.ncbi.nlm.nih.gov/pubmed/20003197 http://dx.doi.org/10.1186/1755-8166-2-26 |
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