Research & Literature

Deletion 18p11.32p11.31 in a Child with Global Developmental Delay and Atypical, Drug-Resistant Absence Seizures.

Verrotti A, Palka C, Prezioso G, et al.

Cytogenetic and genome research 2015; (146(2)):115-119 doi:10.1159/000438502.

[Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 18p deletion].

Pan Q, Hu P, Ou J, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015; (32(5)):695-9 doi:10.3760/cma.j.issn.1003-9406.2015.05.019.

Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center.

Shani H, Goldwaser T, Keating J, Klugman S

American journal of obstetrics and gynecology 2016; (214(6)):729.e1-729.e11.

Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion.

Bellfield EJ, Chan J, Durrin S, et al.

Case reports in endocrinology 2016; (2016()):2853178 doi:10.1155/2016/2853178.

Genetic and Molecular Analyses indicate independent effects of TGIFs on Nodal and Gli3 in neural tube patterning.

Taniguchi K, Anderson AE, Melhuish TA, et al.

European journal of human genetics : EJHG 2017; (25(2)):208-215 doi:10.1038/ejhg.2016.164.

18p Deletion Syndrome: Case Report with Clinical Consideration and Management.

Goyal M, Jain M, Singhal S, Nandimath K

Contemporary clinical dentistry 2017; (8(4)):632-636 doi:10.4103/ccd.ccd_129_17.

Monosomy 18p is a risk factor for facioscapulohumeral dystrophy.

Balog J, Goossens R, Lemmers RJLF, et al.

Journal of medical genetics 2018; (55(7)):469-478 doi:10.1136/jmedgenet-2017-105153.

Functions of TGIF homeodomain proteins and their roles in normal brain development and holoprosencephaly.

Wotton D, Taniguchi K

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(2)):128-139 doi:10.1002/ajmg.c.31612.

Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.

Mello CB, Bueno OFA, Benedetto LM, et al.

Journal of intellectual disability research : JIDR 2019; (63(3)):225-232 doi:10.1111/jir.12568.

Spectrum of Movement Disorders in 18p Deletion Syndrome.

Crosiers D, Blaumeiser B, Van Goethem G

Movement disorders clinical practice 2019; (6(1)):70-73 doi:10.1002/mdc3.12707.

A case of de novo 18p deletion syndrome with panhypopituitarism.

Yang A, Kim J, Cho SY, et al.

Annals of pediatric endocrinology & metabolism 2019; (24(1)):60-63 doi:10.6065/apem.2019.24.1.60.

Prenatal diagnosis of de novo monosomy 18p deletion syndrome by chromosome microarray analysis: Three case reports.

Qi H, Zhu J, Zhang S, et al.

Medicine 2019; (98(14)):e15027 doi:10.1097/MD.0000000000015027.

De Novo Interstitial Deletion of 9q in a Pediatric Patient With Global Developmental Delay.

Keselman D, Singh R, Cohen N, Fefer Z

Child neurology open 2019; (6()):2329048X19844920 doi:10.1177/2329048X19844920.

The Spectrum of Movement Disorders in 18-p Deletion Syndrome.

Vela-Desojo L, Rojo-Sebastian A, Baron-Rubio M, Badenes D

Movement disorders clinical practice 2019; (6(8)):729-730 doi:10.1002/mdc3.12834.

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.

[Genetic analysis of a fetus with partial 18p deletion].

Chen X, Zhu Y, Zhang W, Yan W

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021; (38(5)):477-480 doi:10.3760/cma.j.cn511374-20200417-00278.

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy.

Kocaaga A, Yimenicioglu S

Global medical genetics 2022; (9(2)):179-181 doi:10.1055/s-0042-1743261.

Trisomy 20p/monosomy 18p associated with congenital bilateral perisylvian syndrome.

Bonardi CM, Bayat A, Madsen CG, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(3)):577-582 doi:10.1684/epd.2022.1423.

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

Wakabayashi T, Patel SN, Starr MR, Yonekawa Y

Ophthalmic surgery, lasers & imaging retina 2023; (54(5)):284-290 doi:10.3928/23258160-20230307-02.

Evaluation of the clinical utility of extended non-invasive prenatal testing in the detection of chromosomal aneuploidy and microdeletion/microduplication.

Tian W, Yuan Y, Yuan E, et al.

European journal of medical research 2023; (28(1)):304 doi:10.1186/s40001-023-01285-2.

Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing.

Olayiwola JO, Marhabaie M, Koboldt D, et al.

Molecular genetics & genomic medicine 2024; (12(3)):e2349 doi:10.1002/mgg3.2349.

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.

Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM.

Herlin MK, Bernth Jensen JM, Andreasen L, et al.

Frontiers in genetics 2024; (15()):1437566 doi:10.3389/fgene.2024.1437566.

The behavioral phenotype in a cohort of patients with chromosome 18 anomalies: a retrospective observational study.

Allegri B, Ajmone PF, Michelini G, et al.

Italian journal of pediatrics 2025; (51(1)):60 doi:10.1186/s13052-025-01902-2.

18p Deletion Syndrome Associated with Type 1 Diabetes and Hashimoto's Thyroiditis: A Case Report on Autoimmune Disorders and Genetic Factors.

Oktay MA, Tunca Küçükali ET, Kılınç Uğurlu A, et al.

Journal of clinical research in pediatric endocrinology 2025; doi:10.4274/jcrpe.galenos.2025.2025-6-5.

Catatonia associated with mosaic 18q deletion syndrome: a case report.

Herscheid AL, Franke C, Cosma NC

BMC psychiatry 2026; (26(1)).