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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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Autores principales: 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
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
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.
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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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