Research & Literature

Familial 7q11.23 duplication with variable phenotype.

Patil SJ, Salian S, Bhat V, et al.

American journal of medical genetics. Part A 2015; (167A(11)):2727-30 doi:10.1002/ajmg.a.37226.

7q11.23 Duplication syndrome: Physical characteristics and natural history.

Morris CA, Mervis CB, Paciorkowski AP, et al.

American journal of medical genetics. Part A 2015; (167A(12)):2916-35 doi:10.1002/ajmg.a.37340.

[Chromosome 7q11.23 duplication syndrome. First reported case in Latin America].

Ruiz Botero F, Saldarriaga Gil W, Isaza de Lourido C

Archivos argentinos de pediatria 2016; (114(1)):e1-4 doi:10.5546/aap.2016.e1.

Phenotype of 7q11.23 duplication: A family clinical series.

Earhart BA, Williams ME, Zamora I, et al.

American journal of medical genetics. Part A 2017; (173(1)):114-119 doi:10.1002/ajmg.a.37966.

The 7q11.23 Microduplication Syndrome: A Clinical Report with Review of Literature.

Abbas E, Cox DM, Smith T, Butler MG

Journal of pediatric genetics 2016; (5(3)):129-40 doi:10.1055/s-0036-1584361.

7q11.23 microduplication syndrome: neurophysiological and neuroradiological insights into a rare chromosomal disorder.

Castiglia L, Husain RA, Marquardt I, et al.

Journal of intellectual disability research : JIDR 2018; (62(5)):359-370 doi:10.1111/jir.12457.

Consistent hypersocial behavior in mice carrying a deletion of Gtf2i but no evidence of hyposocial behavior with Gtf2i duplication: Implications for Williams-Beuren syndrome and autism spectrum disorder.

Martin LA, Iceberg E, Allaf G

Brain and behavior 2018; (8(1)):e00895 doi:10.1002/brb3.895.

Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.

Deurloo MHS, Turlova E, Chen WL, et al.

Molecular neurobiology 2019; (56(5)):3313-3325 doi:10.1007/s12035-018-1290-7.

Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.

Xia Y, Huang S, Wu Y, et al.

Molecular genetics & genomic medicine 2019; (7(2)):e00517 doi:10.1002/mgg3.517.

The Prenatal Diagnosis of Seven Fetuses with 7q11.23 Microdeletion or Microduplication.

Dang Y, Wan S, Zheng Y, et al.

Fetal and pediatric pathology 2020; (39(4)):269-276 doi:10.1080/15513815.2019.1651802.

[Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].

Wu D, Zhang M, Gao Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(4)):475-478 doi:10.3760/cma.j.issn.1003-9406.2020.04.028.

Aortic Geometry in Patients with Duplication 7q11.23 Compared to Healthy Controls.

Lechich KM, Zarate YA, Daily JA, Collins RT

Pediatric cardiology 2020; (41(6)):1199-1205 doi:10.1007/s00246-020-02375-2.

The sociability spectrum: evidence from reciprocal genetic copy number variations.

López-Tobón A, Trattaro S, Testa G

Molecular autism 2020; (11(1)):50 doi:10.1186/s13229-020-00347-0.

7q11.23 deletion and duplication.

Osborne LR, Mervis CB

Current opinion in genetics & development 2021; (68()):41-48 doi:10.1016/j.gde.2021.01.013.

A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

Ridnõi K, Muru K, Keernik M, et al.

Molecular genetics & genomic medicine 2021; (9(10)):e1787 doi:10.1002/mgg3.1787.

[Prenatal diagnosis of five fetuses with 7q11.23 microdeletion or microduplication].

Liang B, Wang Y, Chen L, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(11)):1064-1067 doi:10.3760/cma.j.cn511374-20200911-00661.

The Behavioral Phenotype of 7q11.23 Duplication Syndrome Includes Risk for Oppositional Behavior and Aggression.

Klein-Tasman BP, Yund BD, Mervis CB

Journal of developmental and behavioral pediatrics : JDBP 2022; (43(6)):e390-e398 doi:10.1097/DBP.0000000000001068.

Early diagnostic indicators of childhood apraxia of speech in young children with 7q11.23 duplication syndrome: preliminary findings.

Abbiati CI, Velleman SL, Overby MS, et al.

Clinical linguistics & phonetics 2023; (37(4-6)):330-344 doi:10.1080/02699206.2022.2080590.

Early maturation and hyperexcitability is a shared phenotype of cortical neurons derived from different ASD-associated mutations.

Hussein Y, Tripathi U, Choudhary A, et al.

Translational psychiatry 2023; (13(1)):246 doi:10.1038/s41398-023-02535-x.

Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Chung WK, Herrera FF,

Cold Spring Harbor molecular case studies 2023; (9(4)) doi:10.1101/mcs.a006316.

[Clinical and genetic analysis of ten Chinese pedigrees affected with 7q11.23 duplication syndrome].

Shi P, Liu Y, Hou Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(2)):140-144 doi:10.3760/cma.j.cn511374-20221118-00799.

Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.

Wei SM, Gregory MD, Nash T, et al.

iScience 2024; (27(3)):109113 doi:10.1016/j.isci.2024.109113.

[Prenatal ultrasonographic manifestations and genetic diagnosis of nine fetuses with 7q11.23 duplication syndrome].

Li P, Guo J, Che J, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(3)):266-270 doi:10.3760/cma.j.cn511374-20221117-00795.

Mayer-Rokitansky-Küster-Hauser syndrome associated with 7q11.23 microduplication: A case report.

da Cunha GCR, de Souza VS, Von Zuben M, et al.

Global medical genetics 2025; (12(2)):100039 doi:10.1016/j.gmg.2025.100039.

Diagnostic performance of chromosomal microarray and whole exome sequencing in fetal structural anomalies: a single-center retrospective study.

Özer L, Aktuna S, Ünsal E

BMC pregnancy and childbirth 2025; (25(1)):1029 doi:10.1186/s12884-025-08167-x.