De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qabo...
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| Format: | Article |
| Language: | English |
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Sultan Qaboos University
2015-08-01
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| Series: | Sultan Qaboos University Medical Journal |
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| Online Access: | http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=f5e7ab2188234256ce745148d5c71002 |
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| author | Achandira M. Udayakumar Watfa Al-Mamari Abeer Al-Sayegh Adila Al-Kindy |
| author_facet | Achandira M. Udayakumar Watfa Al-Mamari Abeer Al-Sayegh Adila Al-Kindy |
| author_sort | Achandira M. Udayakumar |
| collection | DOAJ |
| description | The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum
varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region
7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in
Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental
delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype
analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the
best of the authors’ knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic
patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular
techniques is recommended to promote characterisation of the phenotype and associated condition. It may also
reveal the possible role of these genes in autism spectrum disorder. |
| first_indexed | 2024-12-19T00:02:06Z |
| format | Article |
| id | doaj.art-5ee0f8838b1f4ec78bc71c8e7f4fae03 |
| institution | Directory Open Access Journal |
| issn | 2075-051X 2075-0528 |
| language | English |
| last_indexed | 2024-12-19T00:02:06Z |
| publishDate | 2015-08-01 |
| publisher | Sultan Qaboos University |
| record_format | Article |
| series | Sultan Qaboos University Medical Journal |
| spelling | doaj.art-5ee0f8838b1f4ec78bc71c8e7f4fae032022-12-21T20:46:26ZengSultan Qaboos UniversitySultan Qaboos University Medical Journal2075-051X2075-05282015-08-01153e41541910.18295/squmj.2015.15.03.018De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial DysmorphismAchandira M. Udayakumar0Watfa Al-Mamari1Abeer Al-Sayegh2Adila Al-Kindy3Department of Genetics, College of Medicine & Health Sciences, Sultan Qaboos UniversityDepartment of Child Health, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, OmanDepartment of Genetics, Sultan Qaboos University Hospital, Muscat, OmanThe duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype analysis/fluorescence in situ hybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=f5e7ab2188234256ce745148d5c71002Autism Spectrum DisorderArray Comparative Genomic HybridizationCraniofacial AbnormalitiesChromosome 7Duplication 7pCase ReportOman |
| spellingShingle | Achandira M. Udayakumar Watfa Al-Mamari Abeer Al-Sayegh Adila Al-Kindy De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism Sultan Qaboos University Medical Journal Autism Spectrum Disorder Array Comparative Genomic Hybridization Craniofacial Abnormalities Chromosome 7 Duplication 7p Case Report Oman |
| title | De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism |
| title_full | De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism |
| title_fullStr | De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism |
| title_full_unstemmed | De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism |
| title_short | De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism |
| title_sort | de novo duplication of 7p21 1p22 2 in a child with autism spectrum disorder and craniofacial dysmorphism |
| topic | Autism Spectrum Disorder Array Comparative Genomic Hybridization Craniofacial Abnormalities Chromosome 7 Duplication 7p Case Report Oman |
| url | http://web.squ.edu.om/squmj/includes/tng/pub/tNG_download.asp?id=f5e7ab2188234256ce745148d5c71002 |
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