3q29 microduplication syndrome: Clinical and molecular description of eleven new cases
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disabil...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Coyan, Alyxis G. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2020transfer abstract |
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| Schlagwörter: |
Intellectual and developmental disabilities (IDDs) |
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| Übergeordnetes Werk: |
Enthalten in: Edge minimization in de Bruijn graphs - Baier, Uwe ELSEVIER, 2021, New York, NY [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:63 ; year:2020 ; number:12 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ejmg.2020.104083 |
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| 245 | 1 | 0 | |a 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases |
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| 520 | |a Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. | ||
| 520 | |a Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. | ||
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10.1016/j.ejmg.2020.104083 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001229.pica (DE-627)ELV052393208 (ELSEVIER)S1769-7212(20)30793-X DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Coyan, Alyxis G. verfasserin aut 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Intellectual and developmental disabilities (IDDs) Elsevier Neurosusceptibility locus (NSLs) Elsevier 3q29 duplication Elsevier Chromosomal microarray analysis (CMA) Elsevier Dyer, Lisa M. oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:12 pages:0 https://doi.org/10.1016/j.ejmg.2020.104083 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 12 0 |
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10.1016/j.ejmg.2020.104083 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001229.pica (DE-627)ELV052393208 (ELSEVIER)S1769-7212(20)30793-X DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Coyan, Alyxis G. verfasserin aut 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Intellectual and developmental disabilities (IDDs) Elsevier Neurosusceptibility locus (NSLs) Elsevier 3q29 duplication Elsevier Chromosomal microarray analysis (CMA) Elsevier Dyer, Lisa M. oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:12 pages:0 https://doi.org/10.1016/j.ejmg.2020.104083 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 12 0 |
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10.1016/j.ejmg.2020.104083 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001229.pica (DE-627)ELV052393208 (ELSEVIER)S1769-7212(20)30793-X DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Coyan, Alyxis G. verfasserin aut 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Intellectual and developmental disabilities (IDDs) Elsevier Neurosusceptibility locus (NSLs) Elsevier 3q29 duplication Elsevier Chromosomal microarray analysis (CMA) Elsevier Dyer, Lisa M. oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:12 pages:0 https://doi.org/10.1016/j.ejmg.2020.104083 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 12 0 |
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10.1016/j.ejmg.2020.104083 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001229.pica (DE-627)ELV052393208 (ELSEVIER)S1769-7212(20)30793-X DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Coyan, Alyxis G. verfasserin aut 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Intellectual and developmental disabilities (IDDs) Elsevier Neurosusceptibility locus (NSLs) Elsevier 3q29 duplication Elsevier Chromosomal microarray analysis (CMA) Elsevier Dyer, Lisa M. oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:12 pages:0 https://doi.org/10.1016/j.ejmg.2020.104083 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 12 0 |
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10.1016/j.ejmg.2020.104083 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001229.pica (DE-627)ELV052393208 (ELSEVIER)S1769-7212(20)30793-X DE-627 ger DE-627 rakwb eng 330 004 VZ LING DE-30 fid 54.00 bkl 31.80 bkl Coyan, Alyxis G. verfasserin aut 3q29 microduplication syndrome: Clinical and molecular description of eleven new cases 2020transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. Intellectual and developmental disabilities (IDDs) Elsevier Neurosusceptibility locus (NSLs) Elsevier 3q29 duplication Elsevier Chromosomal microarray analysis (CMA) Elsevier Dyer, Lisa M. oth Enthalten in Elsevier Baier, Uwe ELSEVIER Edge minimization in de Bruijn graphs 2021 New York, NY [u.a.] (DE-627)ELV007996306 volume:63 year:2020 number:12 pages:0 https://doi.org/10.1016/j.ejmg.2020.104083 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U FID-LING SSG-OPC-MAT 54.00 Informatik: Allgemeines VZ 31.80 Angewandte Mathematik VZ AR 63 2020 12 0 |
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Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. |
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Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. |
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Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distinctive facial features, cleft palate, and musculoskeletal anomalies. In this paper, we summarize the current literature and present eleven additional cases from nine families with the 3q29 microduplication identified by microarray analysis at the Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics. Three diagnoses were made prenatally, making this the first case series to describe 3q29 duplications incidentally identified during the prenatal period. We further delineate the minimal region of overlap previously described in the literature and explore the modifying effects of “second hit” genetic aberrations, which were frequent in our cohort. |
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