Research & Literature

Clinical phenotype of the recurrent 1q21.1 copy-number variant.

Bernier R, Steinman KJ, Reilly B, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2016; (18(4)):341-9 doi:10.1038/gim.2015.78.

Five patients with a chromosome 1q21.1 triplication show macrocephaly, increased weight and facial similarities.

Van Dijck A, van der Werf IM, Reyniers E, et al.

European journal of medical genetics 2015; (58(10)):503-8.

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.

Tassano E, Gimelli S, Divizia MT, et al.

Molecular cytogenetics 2015; (8()):87 doi:10.1186/s13039-015-0188-6.

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].

Natera-De Benito D, Vidal-Esteban A, Sanchez-Del Pozo J, et al.

Revista de neurologia 2015; (61(12)):550-6.

Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.

Nicchia E, Giordano P, Greco C, et al.

International journal of laboratory hematology 2016; (38(4)):412-8 doi:10.1111/ijlh.12516.

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.

Gamba BF, Zechi-Ceide RM, Kokitsu-Nakata NM, et al.

Molecular syndromology 2016; (7(6)):344-348 doi:10.1159/000450971.

Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.

Fu F, Deng Q, Lei TY, et al.

Archives of gynecology and obstetrics 2017; (296(5)):929-940 doi:10.1007/s00404-017-4518-2.

Aripiprazole reversed gastroparesis in a child with 1q21.1-q21.2 microdeletion.

Rabinowitz SS, Ahuja N, Gottfried J

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2017-223231.

An estimation of the prevalence of genomic disorders using chromosomal microarray data.

Gillentine MA, Lupo PJ, Stankiewicz P, Schaaf CP

Journal of human genetics 2018; (63(7)):795-801 doi:10.1038/s10038-018-0451-x.

Chromosomal Microarray With Clinical Diagnostic Utility in Children With Developmental Delay or Intellectual Disability.

Lee JS, Hwang H, Kim SY, et al.

Annals of laboratory medicine 2018; (38(5)):473-480 doi:10.3343/alm.2018.38.5.473.

Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.

Fiddes IT, Lodewijk GA, Mooring M, et al.

Cell 2018; (173(6)):1356-1369.e22 doi:10.1016/j.cell.2018.03.051.

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.

Chen CP, Chang SY, Chen YN, et al.

Taiwanese journal of obstetrics & gynecology 2018; (57(5)):739-744 doi:10.1016/j.tjog.2018.08.024.

Hyponatremia: An Unusual Presentation in a Neonate With Chromosome 1q21.1 Deletion Syndrome.

Alzarka B, Usala R, Whitehead MT, Ahn SY

Frontiers in pediatrics 2018; (6()):273 doi:10.3389/fped.2018.00273.

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):245-257 doi:10.1038/s41436-019-0686-8.

Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.

Chen CP, Huang JP, Chen YY, et al.

Taiwanese journal of obstetrics & gynecology 2019; (58(6)):859-863 doi:10.1016/j.tjog.2019.07.031.

1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes.

Brodie SA, Rodriguez-Aulet JP, Giri N, et al.

Cold Spring Harbor molecular case studies 2019; (5(6)) doi:10.1101/mcs.a004564.

Discordance of cardiovascular abnormalities in a monozygotic twin pair carrying a class II 1q21.1 microdeletion.

Shi SS, Lin SB, Cai DL, et al.

Taiwanese journal of obstetrics & gynecology 2020; (59(1)):123-126 doi:10.1016/j.tjog.2019.11.019.

Recurrent 1q21.1 deletion syndrome: report on variable expression, nonpenetrance and review of literature.

Upadhyai P, Amiri EF, Guleria VS, et al.

Clinical dysmorphology 2020; (29(3)):127-131 doi:10.1097/MCD.0000000000000327.

Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.

Pang H, Yu X, Kim YM, et al.

Frontiers in genetics 2020; (11()):577 doi:10.3389/fgene.2020.00577.

Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents.

Smajlagić D, Lavrichenko K, Berland S, et al.

European journal of human genetics : EJHG 2021; (29(1)):205-215 doi:10.1038/s41431-020-00707-7.

Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia.

Cowan J, Parikh T, Waghela R, Mora R

Cureus 2020; (12(9)):e10557 doi:10.7759/cureus.10557.

ClassifyCNV: a tool for clinical annotation of copy-number variants.

Gurbich TA, Ilinsky VV

Scientific reports 2020; (10(1)):20375 doi:10.1038/s41598-020-76425-3.

Clinical characterization of individuals with the distal 1q21.1 microdeletion.

Edwards SD, Schulze KV, Rosenfeld JA, et al.

American journal of medical genetics. Part A 2021; (185(5)):1388-1398 doi:10.1002/ajmg.a.62104.

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans.

Sønderby IE, van der Meer D, Moreau C, et al.

Translational psychiatry 2021; (11(1)):182 doi:10.1038/s41398-021-01213-0.

Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.

Monier I, Receveur A, Houfflin-Debarge V, et al.

American journal of obstetrics and gynecology 2021; (225(6)):676.e1-676.e15 doi:10.1016/j.ajog.2021.05.035.

[Genetic Study and Prenatal Diagnosis of a Family with Thrombocytopenia-Absent Radius (TAR) Syndrome].

Ding L, Huang YZ, Qian YQ, Dong MY

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2021; (52(4)):711-715 doi:10.12182/20210760508.

Comparing Copy Number Variations in a Danish Case Cohort of Individuals With Psychiatric Disorders.

Calle Sánchez X, Helenius D, Bybjerg-Grauholm J, et al.

JAMA psychiatry 2022; (79(1)):59-69 doi:10.1001/jamapsychiatry.2021.3392.

Recommendations for the surveillance of mental health problems in childhood, adolescent, and young adult cancer survivors: a report from the International Late Effects of Childhood Cancer Guideline Harmonization Group.

Marchak JG, Christen S, Mulder RL, et al.

The Lancet. Oncology 2022; (23(4)):e184-e196 doi:10.1016/S1470-2045(21)00750-6.

Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.

Monteiro C, Gonçalves A, Oliveira J, et al.

International journal of molecular sciences 2022; (23(17)) doi:10.3390/ijms23179621.

Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation.

Wen X, Xing H, Qi K, et al.

Disease markers 2022; (2022()):5487452 doi:10.1155/2022/5487452.

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.

Guo N, Xue H, Liang B, et al.

BMC medical genomics 2023; (16(1)):197 doi:10.1186/s12920-023-01618-4.

Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review.

Bourgois A, Bizaoui V, Colson C, et al.

American journal of medical genetics. Part A 2024; (194(3)):e63457 doi:10.1002/ajmg.a.63457.

[Analysis of clinical characteristics and molecular genetics in eighteen patients with 1q21.1 microdeletion syndrome].

Luo X, Niu H, Zhou F, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024; (41(4)):480-485 doi:10.3760/cma.j.cn511374-20230311-00125.

Prenatal diagnosis of the recurrent 1q21.1 microdeletions in fetuses with ultrasound anomalies and review of the literature.

Liu L, Lei T, Guo F, et al.

Frontiers in genetics 2024; (15()):1448341 doi:10.3389/fgene.2024.1448341.

Prenatal ultrasound phenotype of fetuses with recurrent 1q21.1 deletion and duplication syndrome.

Wang F, Peng H, Lou G, et al.

Frontiers in pediatrics 2024; (12()):1504122 doi:10.3389/fped.2024.1504122.

Healthcare Transition to Adulthood in Patients with 22q11.2 Deletion Syndrome: A Comprehensive Literature Review and Transition Framework.

MacIsaac MF, Mattia A, Montes LA, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2026; (63(5)):1357-1372 doi:10.1177/10556656251331392.

A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.

Guo X, Guo J, Liu X, Hu T

Frontiers in genetics 2025; (16()):1612654 doi:10.3389/fgene.2025.1612654.

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification.

Bakır A, Alay MT, Tekbaş UC, et al.

Diagnostics (Basel, Switzerland) 2025; (15(17)) doi:10.3390/diagnostics15172129.

Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.

Lemée MV, Loviglio MN, Ye T, et al.

Nucleic acids research 2025; (53(18)) doi:10.1093/nar/gkaf934.

Prenatal diagnosis of 1q21.1 microdeletions and microduplications: a retrospective case series.

Liu Z, Yi S, Li M, Liu N

Molecular cytogenetics 2025; (18(1)):23 doi:10.1186/s13039-025-00731-6.

Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Information of 1q21.1 Deletion and Duplication Syndromes: A Single-Center Case Series.

Luo X, Chen X, Tang Y, et al.

Fetal diagnosis and therapy 2026; (53(3)):246-257 doi:10.1159/000549222.

Non-Coding c.*6C>T Variant in RBM8A Associated With Thrombocytopenia-Absent Radius (TAR) Syndrome in Three Indian Patients.

Langeh N, Sharath R, Ansari MT, et al.

Clinical genetics 2026; (110(4)):490-495 doi:10.1111/cge.70208.

[The Gap between Need and Reality in Neuropsychological Care in Pediatric Oncology - Position Paper].

Lüttich P, Leiss U, Ross H, et al.

Klinische Padiatrie 2026; doi:10.1055/a-2880-2057.

Phenotypic spectrum of 1q21.1 copy number variants in 42 children: genotype-phenotype correlations and clinical implications.

Mutlucan Köseoğlu G, Ceylan AC, Çavdarlı B, et al.

European journal of pediatrics 2026; (185(11)).