Research & Literature

Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report.

Krishnamoorthy S, Gopikrishna V

Journal of conservative dentistry : JCD 2015; (18(3)):265-8 doi:10.4103/0972-0707.157269.

A rare sex chromosome aneuploidy: 48,XXYY syndrome.

Atik T, Çoğulu Ö, Özkınay F

Turk pediatri arsivi 2016; (51(2)):106-9 doi:10.5152/TurkPediatriArs.2016.1551.

Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter Syndrome, XYY, and XXYY.

Tartaglia NR, Wilson R, Miller JS, et al.

Journal of developmental and behavioral pediatrics : JDBP 2017; (38(3)):197-207 doi:10.1097/DBP.0000000000000429.

Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome.

Liu DF, Zhao LM, Hong K, et al.

Asian journal of andrology 2018; (20(2)):208-209 doi:10.4103/aja.aja_44_17.

Phonemic and Semantic Verbal Fluency in Sex Chromosome Aneuploidy: Contrasting the Effects of Supernumerary X versus Y Chromosomes on Performance.

Udhnani M, Maiman M, Blumenthal JD, et al.

Journal of the International Neuropsychological Society : JINS 2018; (24(9)):917-927 doi:10.1017/S1355617718000723.

Rare sex chromosome variation 48,XXYY: An integrative review.

Blumling AA, Martyn K, Talboy A, Close S

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):386-403 doi:10.1002/ajmg.c.31789.

[48,XXYY syndrome: A report of four cases].

Tian LL, Liu HJ, Zhou YL, et al.

Zhonghua nan ke xue = National journal of andrology 2020; (26(2)):149-153.

An assessment of the analytical performance of non-invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717-patient sample in a single prenatal diagnosis Centre in China.

Luo Y, Hu H, Zhang R, et al.

The journal of gene medicine 2021; (23(9)):e3362 doi:10.1002/jgm.3362.

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities.

Guo N, Cai M, Lin M, et al.

Molecular biology reports 2022; (49(10)):9251-9256 doi:10.1007/s11033-022-07754-x.

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review.

Ricciardi G, Cammisa L, Bove R, et al.

Children (Basel, Switzerland) 2022; (9(11)) doi:10.3390/children9111719.

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.

Liu JL, Wang XW, Liu CH, et al.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2022; doi:10.1093/ndt/gfac338.

Case report: Bipolar disorder in 48,XXYY syndrome.

Razali NA, Mohd Daud TI, Woon LS, et al.

Frontiers in psychiatry 2022; (13()):1080698 doi:10.3389/fpsyt.2022.1080698.

Phenomenology of Tremor In 48,XXYY Syndrome: A Case Report.

Cartella SM, Morgante F

Movement disorders clinical practice 2023; (10(3)):493-495 doi:10.1002/mdc3.13639.

Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYY.

Ahlawat N, Elliott K, Ormond KE, et al.

Journal of community genetics 2024; (15(1)):75-83 doi:10.1007/s12687-023-00682-8.

Foveal hypoplasia in a Chinese adolescent with 48, XXYY syndrome.

Chen C, Guo S, Huang Z, et al.

Ophthalmic genetics 2024; (45(3)):258-261 doi:10.1080/13816810.2023.2291669.

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.

Spaziani M, Carlomagno F, Tarantino C, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(8)):e1564-e1573 doi:10.1210/clinem/dgad730.

A Challenging Case of Diabetes in a Patient With XXYY Syndrome.

Bernacet Rivera LM, Aftab HB, Mirza FS

JCEM case reports 2024; (2(4)):luae014 doi:10.1210/jcemcr/luae014.

Evidence-based recommendations for delivering the diagnosis of X & Y chromosome multisomies in children, adolescents, and young adults: an integrative review.

Riggan KA, Ormond KE, Allyse MA, Close S

BMC pediatrics 2024; (24(1)):263 doi:10.1186/s12887-024-04723-0.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.

Hou A, Liu X, Sun L, Ding X

BMC ophthalmology 2024; (24(1)):186 doi:10.1186/s12886-024-03456-z.

Gender and Sex Inclusive Approaches for Discussing Predicted Fetal Sex: A Call for Reflection and Research.

Llorin H, Lundeen T, Collins E, et al.

Journal of midwifery & women's health 2024; (69(6)):821-825 doi:10.1111/jmwh.13663.

Turner syndrome and neuropsychological abnormalities: a review and case series.

Guaraná BB, Nunes MR, Muniz VF, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2024; (43()):e2023199 doi:10.1590/1984-0462/2025/43/2023199.

A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk.

Berry ASF, Finucane BM, Myers SM, et al.

Nature communications 2024; (15(1)):8897 doi:10.1038/s41467-024-53211-7.

Psychotropic Medication Use in 48,XXYY Syndrome.

Dreyer J, Howell S, Bothwell S, et al.

American journal of medical genetics. Part A 2025; (197(8)):e64077 doi:10.1002/ajmg.a.64077.

Pigmentary glaucoma in a patient with 48,XXYY syndrome.

Vavasseur T, Giraud JM, Fénolland JR

Journal francais d'ophtalmologie 2025; (48(6)):104542 doi:10.1016/j.jfo.2025.104542.

Rare 48, XXYY Syndrome with Primary Infertility and Behavioural Disorder: A Case Report.

Ambulkar PS, Jain S, Waghmare J, Narang P

Journal of human reproductive sciences 2025; (18(2)):129-133 doi:10.4103/jhrs.jhrs_43_25.

Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.

Francisco T, Spar AC, Napalinga KM

Cureus 2025; (17(8)):e90743 doi:10.7759/cureus.90743.

Hypopituitarism and Rathke's cleft cyst in 48,XXYY Syndrome: new insights into sex chromosome aneuploidies.

Batista RL, Nakaguma M, Tavares LAG, et al.

Einstein (Sao Paulo, Brazil) 2025; (23()):eRC1539 doi:10.31744/einstein_journal/2025RC1539.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Olaya M, Samango-Sprouse C, Counts D, et al.

Frontiers in endocrinology 2025; (16()):1688851 doi:10.3389/fendo.2025.1688851.