Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Study | Cases Recorded | Prenatal | Postnatal |
---|---|---|---|
Dawson et al., 2015 [2] | 1 | - | 1 |
Urraca et al., 2013 [8] | 14 | - | 14 |
Bundey et al., 1994 [10] | 1 | - | 1 |
Castronovo et al., 2014 [1] | 1 | - | 1 |
Schinzel et al., 1994 [11] | 1 | - | 1 |
Crawford et al., 1995 [12] | 1 | - | 1 |
Chadwick et al., 1996 [13] | 1 | - | 1 |
Cassidy et al., 1996; Robinson et al., 1998 [14,15] | 1 | - | 1 |
Long et al., 1998 [16] | 1 | - | 1 |
Reddy and Logan 2000 [17] | 1 | - | 1 |
Pettigrew et al., 1987; Ungaro et al., 2001 [18,19] | 1 | - | 1 |
Clayton-Smith et al., 1993; Ungaro et al., 2001 [19,20] | 1 | - | 1 |
Holowinski et al., 1993; Ungaro et al., 2001 [19,21] | 2 | - | 2 |
Vialard et al., 2003 [22] | 1 | - | 1 |
Song et al., 2022 [23] | 3 | 3 | - |
Marini et al., 2013 [24] | 5 | - | 5 |
Tan et al., 2014 [25] | 2 | - | 2 |
Han et al., 2021 [26] | 4 | - | 4 |
Huang et al., 2021 [4] | 1 | - | 1 |
Ortiz-Prado et al., 2021 [27] | 1 | - | 1 |
Kang et al., 2021 [9] | 5 | 5 | - |
Depienne et al., 2009 [28] | 3 | - | 3 |
Mohandas et al., 1999 [29] | 1 | - | 1 |
Engelen et al., 1999 [30] | 1 | - | 1 |
Mao et al., 2000 [31] | 1 | - | 1 |
Roberts et al., 2000; Bolton et al., 2004; Veltman et al., 2005 [32,33,34] | 2 | - | 2 |
Smith et al., 2004 [35] | 1 | - | 1 |
Wisniewski et al., 1979 [36] | 5 | - | 5 |
Al Ageeli et al., 2014 [37] | 15 | - | 15 |
Browne et al., 1997 [38] | 24 | - | 24 |
Baker et al., 1994 [39] | 1 | - | 1 |
Cook et al., 1997 [40] | 2 | - | 2 |
Repetto et al., 1998 [41] | 3 | - | 3 |
Shroer et al., 1998 [42] | 2 | - | 2 |
Gurrieri et al., 1999 [43] | 1 | - | 1 |
Burraco et al., 2017 [44] | 3 | - | 3 |
He et al., 2023 [45] | 1 | 1 | - |
Ayaz-Akif et al., 2022 [46] | 1 | - | 1 |
Shin Some et al., 2015 [47] | 1 | - | 1 |
Basarir et al., 2023 [48] | 1 | - | 1 |
Riikonen et al., 2016 [49] | 2 | - | 2 |
Total | 120 | 9 | 111 |
Phenotypic Features | Individuals per Feature | Percentage |
---|---|---|
Normal | 15 | 13.04% |
Developmental delay | 15 | 13.04% |
ASD | 8 | 6.95% |
Schizophrenia | 1 | 0.88% |
Epilepsy | 2 | 1.74% |
Behavioral problems | 3 | 2.61% |
Composite phenotype | 62 | 53.91% |
Congenital heart defects | 2 | 1.74% |
Other | 7 | 6.09% |
Total | 115 | 100% |
Phenotypic Features | Individuals per Feature | Percentage |
---|---|---|
Normal | 10 | 71.43% |
Congenital heart defects | 3 | 21.43% |
IUGR | 1 | 7.14% |
Total | 14 | 100% |
Phenotypic Features | BP1-BP2 | BP1-BP3 | BP2-BP3 | BP2-BP4 | BP2-BP5 |
---|---|---|---|---|---|
Normal | 2 | 3 | 2 | - | - |
Developmental delay | - | 1 | 2 | - | - |
ASD | - | 3 | 3 | 2 | - |
Schizophrenia | - | - | 1 | - | - |
Behavioral problems | 2 | - | - | - | - |
Composite phenotype | 11 | 6 | 28 | 1 | 1 |
PWS-related phenotype | - | - | 1 | - | - |
Congenital heart defects | 2 | - | - | - | - |
Other | 1 | 1 | 3 | - | - |
Total | 18 | 14 | 40 | 3 | 1 |
Phenotypic Features | BP1-BP2 | BP1-BP3 | BP2-BP3 |
---|---|---|---|
Normal | 8 | - | - |
Congenital heart defects | 2 | 1 | - |
IUGR | - | - | 1 |
Total | 10 | 1 | 1 |
Phenotypic Features | Maternal Inheritance | Paternal Inheritance | De Novo | Unknown |
---|---|---|---|---|
Normal | 2 | 10 | - | 3 |
Developmental delay | 12 | 1 | 1 | 1 |
ASD | 6 | 2 | - | - |
Schizophrenia | 1 | - | - | - |
Epilepsy | - | 1 | - | 1 |
Behavioral problems | 1 | 1 | - | - |
Composite phenotype | 26 | 13 | 16 | 3 |
Congenital heart defects | - | 1 | - | - |
Total | 48 | 29 | 17 | 8 |
Phenotypic Features | Maternal Inheritance | Paternal Inheritance | De Novo | Unknown |
---|---|---|---|---|
Normal | 1 | 1 | 3 | - |
IUGR | 1 | - | - | 1 |
Congenital heart defects | 1 | - | - | - |
Total | 3 | 1 | 3 | 1 |
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Bisba, M.; Malamaki, C.; Constantoulakis, P.; Vittas, S. Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases. Genes 2024, 15, 1304. https://doi.org/10.3390/genes15101304
Bisba M, Malamaki C, Constantoulakis P, Vittas S. Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases. Genes. 2024; 15(10):1304. https://doi.org/10.3390/genes15101304
Chicago/Turabian StyleBisba, Maria, Christina Malamaki, Pantelis Constantoulakis, and Spiros Vittas. 2024. "Chromosome 15q11-q13 Duplication Syndrome: A Review of the Literature and 14 New Cases" Genes 15, no. 10: 1304. https://doi.org/10.3390/genes15101304