Research & Literature

Epilepsy and chromosome 18 abnormalities: A review.

Verrotti A, Carelli A, di Genova L, Striano P

Seizure 2015; (32()):78-83.

[Chromosome microarray analysis of patients with 18q deletion syndrome].

Feng J, Hao J, Chen Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(2)):203-7 doi:10.3760/cma.j.issn.1003-9406.2016.02.017.

Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature.

Tassano E, Severino M, Rosina S, et al.

Molecular cytogenetics 2016; (9()):78 doi:10.1186/s13039-016-0285-1.

Experiences in microarray-based evaluation of developmental disabilities and congenital anomalies.

Ozyilmaz B, Kirbiyik O, Koc A, et al.

Clinical genetics 2017; (92(4)):372-379 doi:10.1111/cge.12978.

[Genotype and phenotype analysis of a child with partial 18q deletion syndrome].

Shi S, Guo L, Zha Q, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017; (34(4)):567-570 doi:10.3760/cma.j.issn.1003-9406.2017.04.022.

Atrial septal defect can be easily missed in chromosome 18q deletion syndrome.

Sabouni MA, Benedict D, Alom MS, et al.

Oxford medical case reports 2018; (2018(10)):omy076 doi:10.1093/omcr/omy076.

[Genome-wide copy number microarray analysis for a boy with autism].

He X, Zhao P, Huang Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(2)):157-160 doi:10.3760/cma.j.issn.1003-9406.2019.02.016.

Long-term safety and effectiveness of growth hormone therapy in Korean children with growth disorders: 5-year results of LG Growth Study.

Rhie YJ, Yoo JH, Choi JH, et al.

PloS one 2019; (14(5)):e0216927 doi:10.1371/journal.pone.0216927.

Pandora's pregnancy: NIPT, CMA, and genome sequencing-A new era for prenatal genetic testing.

Hashiloni-Dolev Y, Nov-Klaiman T, Raz A

Prenatal diagnosis 2019; (39(10)):859-865 doi:10.1002/pd.5495.

Clinical delineation of 18q11-q12 microdeletion: Intellectual disability, speech and behavioral disorders, and conotruncal heart defects.

Rojnueangnit K, Charalsawadi C, Thammachote W, et al.

Molecular genetics & genomic medicine 2019; (7(9)):e896 doi:10.1002/mgg3.896.

Growth hormone treatment in a patient with deletion of the long arm of chromosome 18: An 8-year observation.

Jackowski T, Petriczko E, Horodnicka-Jozwa A, et al.

Neuro endocrinology letters 2019; (40(4)):169-174.

Array-comparative Genomic Hybridization Results in Clinically Affected Cases with Apparently Balanced Chromosomal Rearrangements.

Satkin NB, Karaman B, Ergin S, et al.

Balkan journal of medical genetics : BJMG 2020; (23(2)):25-34 doi:10.2478/bjmg-2020-0026.

The genotype and phenotype of chromosome 18p deletion syndrome: Case series.

Jin Q, Qiang R, Cai B, et al.

Medicine 2021; (100(18)):e25777 doi:10.1097/MD.0000000000025777.

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

Hogendorf A, Szadkowska A, Michalak A, et al.

International journal of immunopathology and pharmacology 2021; (35()):20587384211039400 doi:10.1177/20587384211039400.

Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review.

Liu S, Chen M, Yang H, et al.

Frontiers in endocrinology 2021; (12()):776835 doi:10.3389/fendo.2021.776835.

Oral Care in a Patient with Long Arm Deletion Syndrome of Chromosome 18: A Narrative Review and Case Presentation.

Pisano M, Sangiovanni G, D'Ambrosio F, et al.

The American journal of case reports 2022; (23()):e936142 doi:10.12659/AJCR.936142.

Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip.

Yu S, Wang C, Lei K, et al.

BMC medical genomics 2022; (15(1)):199 doi:10.1186/s12920-022-01345-2.

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a 18q21.2q21.32 deletion].

Zhang Y, Qin C, Wu H

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022; (39(10)):1149-1152 doi:10.3760/cma.j.cn511374-20210915-00750.

Dystonic tremor and blepharospasm in a patient with deletion of 18q.

Tereshko Y, Belgrado E, Lettieri C, et al.

Clinical neurology and neurosurgery 2023; (224()):107549 doi:10.1016/j.clineuro.2022.107549.

Terminal microdeletion of chromosome 18 in a Malaysian boy characterized with few features of typical 18q- deletion syndrome: a case report.

Ismail A, Ahid F, Thong MK, Zakaria Z

Journal of medical case reports 2023; (17(1)):250 doi:10.1186/s13256-023-03984-0.

18q21.1q21.32 Deletion in a Patient With Juvenile Cerebral Infarction.

Obara K, Inomata T

Cureus 2023; (15(7)):e42534 doi:10.7759/cureus.42534.

The Effect of Resolution Level and Targeted Design in the Diagnostic Performance of Prenatal Chromosomal Microarray Analysis.

Papageorgiou E, Athanasiadis A, Fidani S, et al.

Fetal diagnosis and therapy 2023; (50(6)):397-405 doi:10.1159/000533137.

A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.

Malik S, Jeanpierre L, Cianferoni A, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63490 doi:10.1002/ajmg.a.63490.

An overview of growth hormone therapy in pediatric cases documented in the Kabi International Growth Study (Pfizer International Growth Database).

Geffner ME, Ranke MB, Wajnrajch MP,

Annals of pediatric endocrinology & metabolism 2024; (29(1)):3-11 doi:10.6065/apem.2346206.103.

SALL3 mediates the loss of neuroectodermal differentiation potential in human embryonic stem cells with chromosome 18q loss.

Lei Y, Al Delbany D, Krivec N, et al.

Stem cell reports 2024; (19(4)):562-578 doi:10.1016/j.stemcr.2024.03.001.

18q Deletion Syndrome-Associated Schizophrenia: A Case Report.

Colijn MA, Crockford DN

Neuropsychobiology 2024; (83(3-4)):179-182 doi:10.1159/000538693.

18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.

Hashiguchi S, Tomomasa D, Nishikawa T, et al.

Journal of clinical immunology 2024; (44(7)):154 doi:10.1007/s10875-024-01751-4.

[Genetic analysis of a child with 18q terminal deletion and aortic regurgitation and a literature review].

Cui H, Zhang F, Yin T, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(10)):1259-1263 doi:10.3760/cma.j.cn511374-20231122-00270.