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
Abstract 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 de...
| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2019-05-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-019-0432-6 |
| _version_ | 1828443148429295616 |
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| author | Maysoon Alsagob Mustafa A. Salih Muddathir H. A. Hamad Yusra Al-Yafee Jawaher Al-Zahrani Albandary Al-Bakheet Michael Nester Nadia Sakati Salma M. Wakil Ali AlOdaib Dilek Colak Namik Kaya |
| author_facet | Maysoon Alsagob Mustafa A. Salih Muddathir H. A. Hamad Yusra Al-Yafee Jawaher Al-Zahrani Albandary Al-Bakheet Michael Nester Nadia Sakati Salma M. Wakil Ali AlOdaib Dilek Colak Namik Kaya |
| author_sort | Maysoon Alsagob |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-10T21:23:58Z |
| format | Article |
| id | doaj.art-74f03fe71e934a9d8b9467422ded30d0 |
| institution | Directory Open Access Journal |
| issn | 1755-8166 |
| language | English |
| last_indexed | 2024-12-10T21:23:58Z |
| publishDate | 2019-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Molecular Cytogenetics |
| spelling | doaj.art-74f03fe71e934a9d8b9467422ded30d02022-12-22T01:33:02ZengBMCMolecular Cytogenetics1755-81662019-05-011211610.1186/s13039-019-0432-6First 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 patientMaysoon Alsagob0Mustafa A. Salih1Muddathir H. A. Hamad2Yusra Al-Yafee3Jawaher Al-Zahrani4Albandary Al-Bakheet5Michael Nester6Nadia Sakati7Salma M. Wakil8Ali AlOdaib9Dilek Colak10Namik Kaya11Department of Genetics, King Faisal Specialist Hospital and Research CentreDivision of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud UniversityDivision of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud UniversityDepartment of Genetics, King Faisal Specialist Hospital and Research CentreDepartment of Genetics, King Faisal Specialist Hospital and Research CentreDepartment of Genetics, King Faisal Specialist Hospital and Research CentreDepartment of Neurosciences, King Faisal Specialist Hospital and Research CentreDepartment of Neurosciences, King Faisal Specialist Hospital and Research CentreDepartment of Genetics, King Faisal Specialist Hospital and Research CentreDepartment of Genetics, King Faisal Specialist Hospital and Research CentreDepartment of Biostatistics, Epidemiology, and Scientific Computing, King Faisal Specialist Hospital and Research CentreDepartment of Genetics, King Faisal Specialist Hospital and Research CentreAbstract 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.http://link.springer.com/article/10.1186/s13039-019-0432-615q13.3 syndromeConsecutive deletionsHigh IQCHRNA7HyperactivityCognitive impairment |
| spellingShingle | Maysoon Alsagob Mustafa A. Salih Muddathir H. A. Hamad Yusra Al-Yafee Jawaher Al-Zahrani Albandary Al-Bakheet Michael Nester Nadia Sakati Salma M. Wakil Ali AlOdaib Dilek Colak Namik Kaya 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 Molecular Cytogenetics 15q13.3 syndrome Consecutive deletions High IQ CHRNA7 Hyperactivity Cognitive impairment |
| 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 | 15q13.3 syndrome Consecutive deletions High IQ CHRNA7 Hyperactivity Cognitive impairment |
| url | http://link.springer.com/article/10.1186/s13039-019-0432-6 |
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