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First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient

15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions a...

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Autores principales: Alsagob, Maysoon, Salih, Mustafa A., Hamad, Muddathir H. A., Al-Yafee, Yusra, Al-Zahrani, Jawaher, Al-Bakheet, Albandary, Nester, Michael, Sakati, Nadia, Wakil, Salma M., AlOdaib, Ali, Colak, Dilek, Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525444/
https://www.ncbi.nlm.nih.gov/pubmed/31131027
http://dx.doi.org/10.1186/s13039-019-0432-6
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author Alsagob, Maysoon
Salih, Mustafa A.
Hamad, Muddathir H. A.
Al-Yafee, Yusra
Al-Zahrani, Jawaher
Al-Bakheet, Albandary
Nester, Michael
Sakati, Nadia
Wakil, Salma M.
AlOdaib, Ali
Colak, Dilek
Kaya, Namik
author_facet Alsagob, Maysoon
Salih, Mustafa A.
Hamad, Muddathir H. A.
Al-Yafee, Yusra
Al-Zahrani, Jawaher
Al-Bakheet, Albandary
Nester, Michael
Sakati, Nadia
Wakil, Salma M.
AlOdaib, Ali
Colak, Dilek
Kaya, Namik
author_sort Alsagob, Maysoon
collection PubMed
description 15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for the 15q13.3 deletion syndrome’s pathogenicity. Patient 1 has cognitive impairment, learning disabilities, hyperactivity and subtle dysmorphic features whereas patient 2 has mild language impairment with speech difficulty, mild dysmorphia, heart defect and interestingly a high IQ that has not been reported in 15q13.3 syndrome patients before. Our study presents first report of such two successive deletions in 15q13.3 syndrome patients and a high IQ in a 15q13.3 syndrome patient. Our study expands the breakpoints and phenotypic features related to 15q13.3 syndrome.
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spelling pubmed-65254442019-05-24 First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient Alsagob, Maysoon Salih, Mustafa A. Hamad, Muddathir H. A. Al-Yafee, Yusra Al-Zahrani, Jawaher Al-Bakheet, Albandary Nester, Michael Sakati, Nadia Wakil, Salma M. AlOdaib, Ali Colak, Dilek Kaya, Namik Mol Cytogenet Short Report 15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deletions on chromosome 15q13. Using high-density microarrays, we characterized these deletions and their approximate breakpoints. The second deletion in both patients overlaps in a small area containing CHRNA7 where the gene is partially deleted. The CHRNA7 is considered a strong candidate for the 15q13.3 deletion syndrome’s pathogenicity. Patient 1 has cognitive impairment, learning disabilities, hyperactivity and subtle dysmorphic features whereas patient 2 has mild language impairment with speech difficulty, mild dysmorphia, heart defect and interestingly a high IQ that has not been reported in 15q13.3 syndrome patients before. Our study presents first report of such two successive deletions in 15q13.3 syndrome patients and a high IQ in a 15q13.3 syndrome patient. Our study expands the breakpoints and phenotypic features related to 15q13.3 syndrome. BioMed Central 2019-05-18 /pmc/articles/PMC6525444/ /pubmed/31131027 http://dx.doi.org/10.1186/s13039-019-0432-6 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Report
Alsagob, Maysoon
Salih, Mustafa A.
Hamad, Muddathir H. A.
Al-Yafee, Yusra
Al-Zahrani, Jawaher
Al-Bakheet, Albandary
Nester, Michael
Sakati, Nadia
Wakil, Salma M.
AlOdaib, Ali
Colak, Dilek
Kaya, Namik
First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title_full First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title_fullStr First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title_full_unstemmed First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title_short First report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient
title_sort first report of two successive deletions on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high iq patient
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525444/
https://www.ncbi.nlm.nih.gov/pubmed/31131027
http://dx.doi.org/10.1186/s13039-019-0432-6
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