De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorde...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2020-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2020.00375/full |
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| author | Cristina Gug Dorina Stoicanescu Ioana Mozos Ioana Mozos Laura Nussbaum Mariana Cevei Danae Stambouli Anca Gabriela Pavel Gabriela Doros |
| author_facet | Cristina Gug Dorina Stoicanescu Ioana Mozos Ioana Mozos Laura Nussbaum Mariana Cevei Danae Stambouli Anca Gabriela Pavel Gabriela Doros |
| author_sort | Cristina Gug |
| collection | DOAJ |
| description | Duplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607) × 3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3–p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features. |
| first_indexed | 2024-12-21T17:51:24Z |
| format | Article |
| id | doaj.art-dc958de5cc2547c0b0fb672431fd82bf |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-21T17:51:24Z |
| publishDate | 2020-07-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-dc958de5cc2547c0b0fb672431fd82bf2022-12-21T18:55:20ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602020-07-01810.3389/fped.2020.00375542926De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature ReviewCristina Gug0Dorina Stoicanescu1Ioana Mozos2Ioana Mozos3Laura Nussbaum4Mariana Cevei5Danae Stambouli6Anca Gabriela Pavel7Gabriela Doros8Department of Microscopic Morphology, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaDepartment of Microscopic Morphology, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaDepartment of Functional Sciences, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaCenter for Translational Research and Systems Medicine, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaDepartment of Neurosciences, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaDepartment of Psychoneuro Sciences and Rehabilitation, Faculty of Medicine and Pharmacy, University of Oradea, Oradea, RomaniaDepartment of Molecular Genetics and Cytogenetics, Cytogenomic Medical Laboratory, Bucharest, RomaniaDepartment of Molecular Genetics and Cytogenetics, Cytogenomic Medical Laboratory, Bucharest, RomaniaDepartment of Pediatrics, Victor Babes University of Medicine and Pharmacy, Timisoara, RomaniaDuplications of chromosome 8p lead to rare genetic conditions characterized by variable phenotypes. 8p21 and 8p23 duplications were associated with mental retardation but only 8p23 duplication was associated with heart defects. 8p22→ p21.3 duplications were associated with an autism spectrum disorder in several cases. We present a rare case with a de novo duplication of the entire 8p21.3→ p23.3 region, documented by karyotype, FISH, and array CGH, with t(4;8)(q35;p21.3) translocation in a 7 years-old girl. She was referred for genetic counseling at the age of 20 months due to mild dysmorphic facial features, psychomotor retardation, and a noncyanotic heart defect. Another examination carried out at the age of 5 years, enabled the diagnosis of autism spectrum disorder and attention deficit hyperactivity disorder. Upon re-examination after two years she was diagnosed with autism spectrum disorder, attention deficit hyperactivity disorder, liminal intellect with cognitive disharmony, delay in psychomotor acquisitions, developmental language delay, an instrumental disorder, and motor coordination disorder. Cytogenetic analysis using GTG technique revealed the following karyotype: 46,XX,der(4),t(4;8)(q35;p21.3). The translocation of the duplicated 8pter region to the telomeric region 4q was confirmed by FISH analysis (DJ580L5 probe). Array CGH showed: arr[GRCh37]8p23.3p21.3(125733_22400607) × 3. It identified a terminal duplication, a 22.3 Mb copy number gain of chromosome 8p23.3–p21.3, between 125,733 and 22,400,607. In this case, there is a de novo duplication of a large chromosomal segment, which was translocated to chromosome 4q. Our report provides additional data regarding neuropsychiatric features in chromosome 8p duplication. The phenotypic consequences in our patient allow clinical-cytogenetic correlations and may also reveal candidate genes for the phenotypic features.https://www.frontiersin.org/article/10.3389/fped.2020.00375/full8p(21.3–p23.3) duplicationtranslocation(4;8)de novoarray CGHFISHmental retardation |
| spellingShingle | Cristina Gug Dorina Stoicanescu Ioana Mozos Ioana Mozos Laura Nussbaum Mariana Cevei Danae Stambouli Anca Gabriela Pavel Gabriela Doros De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review Frontiers in Pediatrics 8p(21.3–p23.3) duplication translocation(4;8) de novo array CGH FISH mental retardation |
| title | De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review |
| title_full | De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review |
| title_fullStr | De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review |
| title_full_unstemmed | De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review |
| title_short | De novo 8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review |
| title_sort | de novo 8p21 3 p23 3 duplication with t 4 8 q35 p21 3 translocation associated with mental retardation autism spectrum disorder and congenital heart defects case report with literature review |
| topic | 8p(21.3–p23.3) duplication translocation(4;8) de novo array CGH FISH mental retardation |
| url | https://www.frontiersin.org/article/10.3389/fped.2020.00375/full |
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