Research & Literature

Congenital combined deficiency of coagulation factors VII and X--different genetic mechanisms.

Pavlova A, Preisler B, Driesen J, et al.

Haemophilia : the official journal of the World Federation of Hemophilia 2015; (21(3)):386-391 doi:10.1111/hae.12604.

A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.

Garcia-Rodriguez E, Garcia-Garcia E, Perez-Sanchez A, Pavon-Delgado A

Genetic counseling (Geneva, Switzerland) 2015; (26(2)):213-7.

Autosomal ring chromosomes in human genetic disorders.

Yip MY

Translational pediatrics 2015; (4(2)):164-74 doi:10.3978/j.issn.2224-4336.2015.03.04.

22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.

Alp MY, Çebi AH, Seyhan S, et al.

Genetic counseling (Geneva, Switzerland) 2016; (27(1)):43-9.

[Molecular cytogenetic analysis of a case with ring chromosome 3 syndrome].

Zhang K, Song F, Zhang D, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016; (33(6)):816-819 doi:10.3760/cma.j.issn.1003-9406.2016.06.015.

Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literature.

Burgemeister AL, Daumiller E, Dietze-Armana I, et al.

American journal of medical genetics. Part A 2017; (173(3)):727-732 doi:10.1002/ajmg.a.38063.

Chromosome 13q deletion syndrome involving 13q31‑qter: A case report.

Wang YP, Wang DJ, Niu ZB, Cui WT

Molecular medicine reports 2017; (15(6)):3658-3664 doi:10.3892/mmr.2017.6425.

Retinoblastoma and Neuroblastoma Predisposition and Surveillance.

Kamihara J, Bourdeaut F, Foulkes WD, et al.

Clinical cancer research : an official journal of the American Association for Cancer Research 2017; (23(13)):e98-e106 doi:10.1158/1078-0432.CCR-17-0652.

Ring chromosome in myeloid neoplasms is associated with complex karyotype and disease progression.

Rosenbaum MW, Pozdnyakova O, Geyer JT, et al.

Human pathology 2017; (68()):40-46 doi:10.1016/j.humpath.2017.08.009.

Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Case.

Zhao XR, Han X, Wang YL, Hu WJ

Chinese medical journal 2017; (130(24)):3007-3008 doi:10.4103/0366-6999.220308.

ZIC2 in Holoprosencephaly.

Barratt KS, Arkell RM

Advances in experimental medicine and biology 2018; (1046()):269-299 doi:10.1007/978-981-10-7311-3_14.

Human ring chromosome registry for cases in the Chinese population: re-emphasizing Cytogenomic and clinical heterogeneity and reviewing diagnostic and treatment strategies.

Hu Q, Chai H, Shu W, Li P

Molecular cytogenetics 2018; (11()):19 doi:10.1186/s13039-018-0367-3.

Unusually very late-onset new growth of intraocular retinoblastoma: A case report and review of literature.

Gelaw Y, Shoukry SM, Othman IS

American journal of ophthalmology case reports 2017; (5()):130-133 doi:10.1016/j.ajoc.2016.12.013.

Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.

Çakmaklı S, Çankaya T, Gürsoy S, et al.

Cytogenetic and genome research 2017; (153(4)):175-180 doi:10.1159/000486775.

Iris Hypoplasia as the Presenting Sign of Retinoblastoma in a Child With a 13q Deletion.

Shah S, Koban Y, Le BHA, et al.

Journal of pediatric ophthalmology and strabismus 2018; (55()):e10-e13 doi:10.3928/01913913-20180215-02.

Retinoblastoma in Patients with 13q deletion syndrome - case series.

Jedrychowska-Jamborska J, Morawski K, Kubicka-Trzaska A, Romanowska-Dixon B

Klinika oczna 2016; (118(1)):32-35.

Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22.

Kashevarova AA, Belyaeva EO, Nikonov AM, et al.

Molecular cytogenetics 2018; (11()):26 doi:10.1186/s13039-018-0375-3.

Induced pluripotent stem cell line, IMGTi003-A, derived from skin fibroblasts of an intellectually disabled patient with ring chromosome 13.

Nikitina TV, Menzorov AG, Kashevarova AA, et al.

Stem cell research 2018; (33()):260-264 doi:10.1016/j.scr.2018.11.009.

Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation.

de Almeida IG, Kuratani DK, Gomes LM, et al.

European journal of medical genetics 2020; (63(2)):103641 doi:10.1016/j.ejmg.2019.03.005.

Cromosoma 13 en anillo.

Cammarata-Scalisi F, Briceño Y, Cegarra E, Montilla D

Boletin medico del Hospital Infantil de Mexico 2019; (76(2)):100-103 doi:10.24875/BMHIM.18000108.

Bilateral Cleft Lip and Palate Accompanied by 13q- Syndrome with Deficiencies of FVII and FX: A Case Report.

Mishima K, Shiraishi M, Umeda H

The Journal of clinical pediatric dentistry 2019; (43(4)):288-291 doi:10.17796/1053-4625-43.4.11.

Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.

Bellucco FT, Rodrigues de Oliveira-Júnior H, Santos Guilherme R, et al.

Molecular syndromology 2019; (10(3)):139-146 doi:10.1159/000497402.

The rare 13q33-q34 microdeletions: eight new patients and review of the literature.

Sagi-Dain L, Goldberg Y, Peleg A, et al.

Human genetics 2019; (138(10)):1145-1153 doi:10.1007/s00439-019-02048-y.

A Rare Co-occurrence of Intestinal Malrotation and Hirschsprung's Disease in a Neonate with 13q21.31q33.1 Interstitial Deletion Including the EDNRB Gene.

Chatmethakul T, Phaltas R, Minzes G, et al.

Journal of pediatric genetics 2019; (8(3)):142-146 doi:10.1055/s-0038-1677551.

[Molecular cytogenetic diagnosis of a case with ring chromosome 18 syndrome].

Lyu Y, Wang X, Zhang K, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(10)):1010-1014 doi:10.3760/cma.j.issn.1003-9406.2019.10.015.

Number, frequency and time interval of examinations under anesthesia in bilateral retinoblastoma.

Fabian ID, Shah V, Kapelushnik N, et al.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2020; (258(4)):879-886 doi:10.1007/s00417-019-04589-4.

Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome.

Petter C, Moreira LMA, Riegel M

Case reports in genetics 2019; (2019()):7250838 doi:10.1155/2019/7250838.

Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis.

Chen CP, Chen CY, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2020; (59(1)):130-134 doi:10.1016/j.tjog.2019.11.021.

Screening for Pineal Trilateral Retinoblastoma Revisited: A Meta-analysis.

de Jong MC, Kors WA, Moll AC, et al.

Ophthalmology 2020; (127(5)):601-607 doi:10.1016/j.ophtha.2019.10.040.

Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.

He X, Shen H, Fu H, et al.

BMC pediatrics 2020; (20(1)):327 doi:10.1186/s12887-020-02205-7.

13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping.

Dittner-Moormann S, Reschke M, Biewald E, et al.

Molecular cytogenetics 2020; (13()):31 doi:10.1186/s13039-020-00500-7.

Ring chromosome formation by intra-strand repairing of subtelomeric double stand breaks and clinico-cytogenomic correlations for ring chromosome 9.

Chai H, Ji W, Wen J, et al.

American journal of medical genetics. Part A 2020; (182(12)):3023-3028 doi:10.1002/ajmg.a.61890.

Clinical Features and Survival of Chinese Children With Trilateral Retinoblastoma During 2006-2019: A Retrospective Multicenter Study.

Fang X, Wang Y, Yin J, et al.

American journal of ophthalmology 2021; (223()):184-192 doi:10.1016/j.ajo.2020.10.002.

Retinoblastoma management in 13q deletion syndrome patients using super-selective chemotherapies and other cancer-directed interventions.

Cobbs LV, Francis JH, Dunkel IJ, et al.

Pediatric blood & cancer 2021; (68(5)):e28845 doi:10.1002/pbc.28845.

Complex biology of constitutional ring chromosomes structure and (in)stability revealed by somatic cell reprogramming.

Nikitina TV, Kashevarova AA, Gridina MM, et al.

Scientific reports 2021; (11(1)):4325 doi:10.1038/s41598-021-83399-3.

Subsequent Malignant Neoplasms in Retinoblastoma Survivors.

Fabius AWM, van Hoefen Wijsard M, van Leeuwen FE, Moll AC

Cancers 2021; (13(6)) doi:10.3390/cancers13061200.

Prenatal diagnosis of a fetus with mosaic ring chromosome 13: Case report and review of the literature.

Hu XN, Li LL, Shi QY, et al.

Taiwanese journal of obstetrics & gynecology 2021; (60(3)):554-558 doi:10.1016/j.tjog.2021.03.031.

A Case Study of Ring Chromosome 13 in a Pediatric Patient.

Okabe A, Palencia D, Trejo-Solis D, et al.

Journal of the Association of Genetic Technologists 2021; (47(2)):75-77.

Prenatal diagnosis of recurrent mosaic ring chromosome 13 of maternal origin.

Chen CP, Chen CY, Chern SR, et al.

Taiwanese journal of obstetrics & gynecology 2021; (60(4)):771-774 doi:10.1016/j.tjog.2021.05.033.

Retinoblastoma and mosaic 13q deletion: a case report.

Gargallo P, Oltra S, Balaguer J, et al.

International journal of retina and vitreous 2021; (7(1)):50 doi:10.1186/s40942-021-00321-9.

13q Deletion Syndrome Involving RB1: Characterization of a New Minimal Critical Region for Psychomotor Delay.

Privitera F, Calonaci A, Doddato G, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091318.

Combining cytogenetic and genomic technologies for deciphering challenging complex chromosomal rearrangements.

Michaelson-Cohen R, Murik O, Zeligson S, et al.

Molecular genetics and genomics : MGG 2022; (297(4)):925-933 doi:10.1007/s00438-022-01898-y.

Cytogenetic and molecular characterization of a patient having infertility and mild intellectual disability with a very rare unstable ring chromosome 13.

Kaya M, Suer I, Kalayci T, et al.

Scottish medical journal 2022; (67(4)):173-177 doi:10.1177/00369330221114426.

Prenatal diagnosis of distal 13q deletion syndrome in a fetus with esophageal atresia: a case report and review of the literature.

Kotani T, Tsuda H, Ito Y, et al.

Journal of medical case reports 2022; (16(1)):481 doi:10.1186/s13256-022-03713-z.

[Analysis of a child with autosomal dominant mental retardation type 40 due to variant of CHAMP1 gene].

Xu J, Li J, Jiao Z, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023; (40(1)):47-52 doi:10.3760/cma.j.cn511374-20220517-00333.

[Genetic features of a case with mosaic ring chromosome 4 and a review of the literature].

Ma C, Wang Y, Zhen N, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023; (40(1)):105-109 doi:10.3760/cma.j.cn511374-20210424-00358.

Mosaic Ring Chromosome 13 Presented with Isolated Male Infertility: Case Report.

Zamanian M, Sajadi H, Tahsili M, et al.

International journal of fertility & sterility 2023; (17(3)):215-217 doi:10.22074/ijfs.2022.548793.1262.

From Genes to Ambiguity: A Case Study Exploring the Enigmatic Connection Between Chromosome 13q Deletion Syndrome and Ambiguous Genitalia.

Yost M, Johnson T, Kaiser J, Yost C

Cureus 2023; (15(9)):e45168 doi:10.7759/cureus.45168.

An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor.

Guarnizo A, Maldonado F, Baroni L, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2024; (40(3)):961-964 doi:10.1007/s00381-023-06201-x.

[Prenatal genetic diagnosis of a case with ring chromosome 13].

Sun L, Wen J, Chu G, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023; (40(12)):1455-1460 doi:10.3760/cma.j.cn511374-20220705-00451.

Follow-up of Cystic Pineal Glands in Retinoblastoma Patients Does Not Increase Detection of Pineal Trilateral Retinoblastoma.

de Bloeme CM, Jansen RW, de Haan J, et al.

American journal of ophthalmology 2024; (268()):199-211 doi:10.1016/j.ajo.2024.07.005.

Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a single patient.

Chen J, Yang S, Wang H, et al.

Frontiers in neuroscience 2024; (18()):1391596 doi:10.3389/fnins.2024.1391596.

Age distribution of retinoblastoma tumours in familial disease.

Walker JK, Nair D, Mongan AM, et al.

Eye (London, England) 2025; (39(6)):1093-1098 doi:10.1038/s41433-024-03499-y.

Long read Nanopore sequencing identifies precise breakpoints of a de novo paracentric inversion that disrupt the MEIS2 gene in a Chinese girl with syndromic developmental delay.

Tan J, Huang M, Ji X, et al.

BMC pediatrics 2025; (25(1)):18 doi:10.1186/s12887-024-05267-z.

Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice.

Abu-Amero KK, Kondkar AA, Almontashiri NAM, et al.

Genes 2025; (16(9)) doi:10.3390/genes16091031.

Cognition and Anesthesia Exposure in Adolescent and Young Adult Retinoblastoma Survivors.

Belson PJ, Berry JL, Reid MW, Pike NA

Paediatric anaesthesia 2026; (36(5)):549-559 doi:10.1002/pan.70152.