Research & Literature

[An updated review of 1p36 deletion (monosomy) syndrome].

Bello S, Rodríguez-Moreno A

Revista chilena de pediatria 2016; (87(5)):411-421 doi:10.1016/j.rchipe.2015.12.004.

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

Seo GH, Kim JH, Cho JH, et al.

Korean journal of pediatrics 2016; (59(1)):16-23 doi:10.3345/kjp.2016.59.1.16.

The Growing Complexity of the Monosomy 1p36 Syndrome.

Poot M

Molecular syndromology 2016; (7(2)):49-50 doi:10.1159/000445138.

1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.

Kang DS, Shin E, Yu J

Korean journal of pediatrics 2016; (59(Suppl 1)):S14-S18 doi:10.3345/kjp.2016.59.11.S14.

Electroclinical features of epilepsy associated with 1p36 deletion syndrome: A review.

Greco M, Ferrara P, Farello G, et al.

Epilepsy research 2018; (139()):92-101 doi:10.1016/j.eplepsyres.2017.11.016.

Cutis laxa in a patient with 1p36 deletion syndrome.

Zhang Z, Wang J, Li N, et al.

The Journal of dermatology 2018; (45(7)):871-873 doi:10.1111/1346-8138.14311.

Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2.

Miranda-Fernández MC, Ramírez-Oyaga S, Restrepo CM, et al.

Molecular syndromology 2018; (9(3)):164-169 doi:10.1159/000488820.

A Novel Case of Biliary Atresia in a Premature Neonate With 1p36 Deletion Syndrome.

Chawla V, Anagnost MR, Eldemerdash AE, et al.

Journal of investigative medicine high impact case reports 2018; (6()):2324709618790613 doi:10.1177/2324709618790613.

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Verrotti A, Greco M, Varriale G, et al.

Acta neurologica Scandinavica 2018; (138(6)):523-530 doi:10.1111/ane.13006.

Type IV Laryngotracheoesophageal Cleft Associated with Type III Esophageal Atresia in 1p36 Deletions Containing the RERE Gene: Is There a Causal Role for the Genetic Alteration?

Pelizzo G, Puglisi A, Lapi M, et al.

Case reports in pediatrics 2018; (2018()):4060527 doi:10.1155/2018/4060527.

Prenatal findings in 1p36 deletion syndrome: New cases and a literature review.

Guterman S, Beneteau C, Redon S, et al.

Prenatal diagnosis 2019; (39(10)):871-882 doi:10.1002/pd.5498.

Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.

Carter LB, Battaglia A, Cherry A, et al.

American journal of medical genetics. Part A 2019; (179(8)):1543-1546 doi:10.1002/ajmg.a.61266.

Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results.

Zhang X, He P, Han J, et al.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021; (34(13)):2180-2184 doi:10.1080/14767058.2019.1660764.

Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: a case report.

Nistico' D, Guidolin F, Navarra CO, et al.

BMC pediatrics 2020; (20(1)):201 doi:10.1186/s12887-020-02049-1.

Non-classical 1p36 deletion in a patient with Duane retraction syndrome: case report and literature review.

Yokoyama E, Villarroel CE, Diaz S, et al.

Molecular cytogenetics 2020; (13()):42 doi:10.1186/s13039-020-00510-5.

Phenotypic and Molecular Cytogenetic Analysis of a Case of Monosomy 1p36 Syndrome due to Unbalanced Translocation.

Hussen DF, Kamel AK, Mekkawy MK, et al.

Molecular syndromology 2020; (11(5-6)):284-295 doi:10.1159/000510428.

1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization.

Dafir K, Bouzid FZ, Mansouri M, Aboussair N

The Pan African medical journal 2020; (37()):349 doi:10.11604/pamj.2020.37.349.26166.

1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report.

Jang S, Taber A, Bateman MG, et al.

Frontiers in pediatrics 2021; (9()):653633 doi:10.3389/fped.2021.653633.

The Neuropathology of 1p36 Deletion Syndrome: An Autopsy Case Series.

Conway KS, Ghafoor F, Gottschalk AC, et al.

Journal of neuropathology and experimental neurology 2021; (80(9)):856-860 doi:10.1093/jnen/nlab072.

Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment-A Case Report.

Briegel W

International journal of environmental research and public health 2021; (18(22)) doi:10.3390/ijerph182212064.

Outcome of Vertical Expandable Prosthetic Titanium Rib (VEPTR) Instrumentation in Scoliosis Associated With 1p36 Deletion Syndrome: A Case Report.

Bin Majid O, Al Rushud MA, Al-Zayed Z, et al.

Cureus 2022; (14(1)):e21505 doi:10.7759/cureus.21505.

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients.

Jacquin C, Landais E, Poirsier C, et al.

American journal of medical genetics. Part A 2023; (191(2)):445-458 doi:10.1002/ajmg.a.63041.

A Rare Case of an Infant With 1p36 Deletion Syndrome Presenting With Systolic Heart Failure Secondary to Severe Dilated Cardiomyopathy.

Ogbuji CO, Ortega LE, Ward H, et al.

Cureus 2023; (15(9)):e45746 doi:10.7759/cureus.45746.

Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report.

Yang H, Huang J, Zheng H, et al.

BMC medical genomics 2023; (16(1)):282 doi:10.1186/s12920-023-01723-4.

Cardiovascular Phenotypic Spectrum of 1p36 Deletion Syndrome.

Kaur T, Sriram CS, Prasanna P, Kohli U

Journal of pediatric genetics 2023; (12(4)):329-334 doi:10.1055/s-0041-1732473.

Noninsulinoma Pancreatogenous Hypoglycemia Syndrome in a Patient With 1p36 Deletion Syndrome.

Auckley ED, Arosemena M, Philipson LH

JCEM case reports 2024; (2(2)):luae003 doi:10.1210/jcemcr/luae003.

Genetic Analysis of 1p36 Deletions for Six Aborted Fetuses.

Shen Y, Zhang W, Hua P, Qian F

Alternative therapies in health and medicine 2024; (30(10)):384-390.

[Prenatal diagnosis of a fetus with 1p36 deletion syndrome and 3p26.3p25.2 duplication].

Zhao J, Gao J, Zhao X, Li L

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(5)):617-621 doi:10.3760/cma.j.cn511374-20230814-00064.

First-trimester application of expanded non-invasive prenatal testing in the genetic investigation of fetal 1p36 deletion syndrome associated with a familial unbalanced reciprocal translocation of 46,XX,der(1)t(1;2) (p36.2;q37.3)dmat.

Chen CP, Weng SL, Wu FT, et al.

Taiwanese journal of obstetrics & gynecology 2024; (63(6)):909-912 doi:10.1016/j.tjog.2024.09.009.

Anesthesia management for dental procedures in a patient with 1p36 deletion syndrome: a case report.

Çekmen N, Bihorac E, Nur M

Journal of dental anesthesia and pain medicine 2025; (25(2)):133-137 doi:10.17245/jdapm.2025.25.2.133.