Research & Literature

45,X mosaicism with Y chromosome presenting female phenotype.

Fukui S, Watanabe M, Yoshino K

Journal of pediatric surgery 2015; (50(7)):1220-3.

Oral, physical, and behavioral aspects of patient with chromosome 47, XYY syndrome.

Scheidt L, Sanabe ME, Diniz MB

Journal of the Indian Society of Pedodontics and Preventive Dentistry 2015; (33(4)):347-50 doi:10.4103/0970-4388.165719.

XYY syndrome: a 13-year-old boy with tall stature.

Jo WH, Jung MK, Kim KE, et al.

Annals of pediatric endocrinology & metabolism 2015; (20(3)):170-3 doi:10.6065/apem.2015.20.3.170.

Preferential Y-Y pairing and synapsis and abnormal meiotic recombination in a 47,XYY man with non obstructive azoospermia.

Wu C, Wang L, Iqbal F, et al.

Molecular cytogenetics 2016; (9()):9 doi:10.1186/s13039-016-0218-z.

Esthesioneuroblastoma in a boy with 47, XYY karyotype.

Jo HC, Lee SW, Jung HJ, Park JE

Korean journal of pediatrics 2016; (59(Suppl 1)):S92-S95 doi:10.3345/kjp.2016.59.11.S92.

Clinical aspects of infertile 47,XYY patients: a retrospective study.

Borjian Boroujeni P, Sabbaghian M, Vosough Dizaji A, et al.

Human fertility (Cambridge, England) 2019; (22(2)):88-93 doi:10.1080/14647273.2017.1353143.

Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent In situ Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome.

Xu C, Zhang FF, Li HC, et al.

Chinese medical journal 2018; (131(15)):1808-1812 doi:10.4103/0366-6999.237393.

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.

Green T, Flash S, Reiss AL

Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2019; (44(1)):9-21 doi:10.1038/s41386-018-0153-2.

Selective advantage of euploid spermatocytes I in an azoospermic 47,XYY man with gonadal mosaicism.

Sciurano RB, Rahn IM, González Arias B, et al.

Human reproduction (Oxford, England) 2019; (34(3)):568-573 doi:10.1093/humrep/dey387.

Auditory evoked response delays in children with 47,XYY syndrome.

Bloy L, Ku M, Edgar JC, et al.

Neuroreport 2019; (30(7)):504-509 doi:10.1097/WNR.0000000000001233.

Genetic investigations on causes of male infertility in Western Saudi Arabia.

Beg MA, Nieschlag E, Abdel-Meguid TA, et al.

Andrologia 2019; (51(6)):e13272 doi:10.1111/and.13272.

Cognitive Profile, Emotional-Behavioral Features, and Parental Stress in Boys With 47,XYY Syndrome.

Operto FF, Pastorino GMG, Amadori E, et al.

Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology 2019; (32(2)):87-94 doi:10.1097/WNN.0000000000000193.

Abnormal Auditory Mismatch Fields in Children and Adolescents with 47,XYY Syndrome.

Matsuzaki J, Bloy L, Blaskey L, et al.

Developmental neuroscience 2019; (41(1-2)):123-131 doi:10.1159/000500799.

Microspherophakia in a 47, XYY Syndrome Patient: A Case Report.

Rubalcava-Soberanis ML, Antonio-Aguirre B, Mendoza Velásquez C, et al.

Case reports in ophthalmology 2020; (11(1)):1-7 doi:10.1159/000505058.

Reproductive outcomes of 3 infertile males with XYY syndrome: Retrospective case series and literature review.

Zhang X, Liu X, Xi Q, et al.

Medicine 2020; (99(9)):e19375 doi:10.1097/MD.0000000000019375.

Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.

Wang Y, Li S, Wang W, et al.

Molecular cytogenetics 2020; (13()):10 doi:10.1186/s13039-020-0478-5.

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report.

Liu ZH, Zhou SC, Du JW, et al.

BMC endocrine disorders 2020; (20(1)):42 doi:10.1186/s12902-020-0523-8.

Pituitary hyperplasia with Sertoli cell-only and 47,XYY syndromes: an uncommon triad.

Ra AG, Evans PJ, Awasthi A, Srinivas-Shankar U

BMJ case reports 2020; (13(5)) doi:10.1136/bcr-2019-233100.

Morbidity in 47,XYY syndrome: a nationwide epidemiological study of hospital diagnoses and medication use.

Berglund A, Stochholm K, Gravholt CH

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(9)):1542-1551 doi:10.1038/s41436-020-0837-y.

Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China.

Liu Y, Liu H, He Y, et al.

Human genomics 2020; (14(1)):21 doi:10.1186/s40246-020-00268-2.

Tall stature in children and adolescents.

Urakami T

Minerva pediatrica 2020; (72(6)):472-483 doi:10.23736/S0026-4946.20.05971-X.

CNVs and Chromosomal Aneuploidy in Patients With Early-Onset Schizophrenia and Bipolar Disorder: Genotype-Phenotype Associations.

Gregoric Kumperscak H, Krgovic D, Drobnic Radobuljac M, et al.

Frontiers in psychiatry 2020; (11()):606372 doi:10.3389/fpsyt.2020.606372.

Decreased levels of γ-aminobutyric acid in temporal lobe of children with 47,XYY syndrome.

Roberts TPL, Bloy L, Miller JS, et al.

Neuroreport 2021; (32(7)):541-547 doi:10.1097/WNR.0000000000001628.

Amniotic fluid stem cells and the cell source repertoire for non-invasive prenatal testing.

Rosner M, Kolbe T, Voronin V, Hengstschläger M

Stem cell reviews and reports 2022; (18(4)):1366-1371 doi:10.1007/s12015-021-10228-5.

A patient with 47, XYY mosaic karyotype and congenital absence of bilateral vas deferens: a case report and literature review.

Zou C, Yu D, Geng H, et al.

BMC urology 2022; (22(1)):16 doi:10.1186/s12894-022-00965-1.

Detection and characterization of male sex chromosome abnormalities in the UK Biobank study.

Zhao Y, Gardner EJ, Tuke MA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(9)):1909-1919 doi:10.1016/j.gim.2022.05.011.

New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.

Gravholt CH, Ferlin A, Gromoll J, et al.

Endocrine connections 2023; (12(3)).

Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling.

Jodarski C, Duncan R, Torres E, et al.

Journal of community genetics 2023; (14(1)):17-25 doi:10.1007/s12687-022-00630-y.

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome.

Raznahan A, Rau S, Schaffer L, et al.

Journal of neurodevelopmental disorders 2023; (15(1)):8 doi:10.1186/s11689-023-09476-y.

Morbidity, mortality, and socioeconomics in Klinefelter syndrome and 47,XYY syndrome: a comparative review.

Ridder LO, Berglund A, Stochholm K, et al.

Endocrine connections 2023; (12(5)).

Prenatal diagnosis of non-mosaic sex chromosome abnormalities: a 10-year experience from a tertiary referral center.

Wu X, Guo D, Li Y, et al.

Journal of perinatal medicine 2023; (51(7)):904-912 doi:10.1515/jpm-2022-0552.

Sex chromosome aneuploidies and fertility: 47,XXY, 47,XYY, 47,XXX and 45,X/47,XXX.

Rogol AD

Endocrine connections 2023; (12(9)).

Prenatal diagnosis after high chance non-invasive prenatal testing for trisomies 21, 18 and 13, chorionic villus sampling or amniocentesis? - Experience at a district general hospital in the United Kingdom.

Okoror CEM, Arora S

European journal of obstetrics & gynecology and reproductive biology: X 2023; (19()):100211 doi:10.1016/j.eurox.2023.100211.

Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort.

Davis SM, Teerlink C, Lynch JA, et al.

medRxiv : the preprint server for health sciences 2023; doi:10.1101/2023.07.15.23292710.

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.

Double Aneuploidy of Down Syndrome (Trisomy 21) and Jacobs Syndrome (Trisomy XYY) with Complete Tracheal Rings Deformity: Case Report and Literature Review.

Adeleke O, Elmufti H, Zhang J, et al.

AJP reports 2023; (13(4)):e53-e60 doi:10.1055/s-0043-1774728.

Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study.

Kim H, Park JE, Kang KM, et al.

BMC pregnancy and childbirth 2024; (24(1)):93 doi:10.1186/s12884-024-06275-8.

Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.

Davis SM, Teerlink C, Lynch JA, et al.

JAMA network open 2024; (7(3)):e244113 doi:10.1001/jamanetworkopen.2024.4113.

A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder.

Kalayci A, Agirbasli D, Serdengecti N, et al.

Psychiatric genetics 2024; (34(6)):134-139 doi:10.1097/YPG.0000000000000378.

Gonadal function in patients with 47,XYY syndrome: a systematic review and meta-analysis.

Cannarella R, Pedano A, Compagnone M, et al.

Endocrine connections 2025; (14(4)).

Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Pires MJ, Teixeira LC, Angeloni LL, et al.

Frontiers in bioscience (Scholar edition) 2025; (17(1)):25251 doi:10.31083/FBS25251.

Preimplantation genetic testing might not be the necessity for male patients with 47,XYY syndrome: A pilot study.

Dong F, Zheng Z, Ding Y, et al.

Reproductive medicine and biology 2025; (24(1)):e12650 doi:10.1002/rmb2.12650.

Age-related differences in psychopathology within sex chromosome trisomies.

Roybal MR, Liu S, Larsen IG, et al.

European child & adolescent psychiatry 2025; (34(10)):3275-3284 doi:10.1007/s00787-025-02743-4.

Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.

Morales-Reyes R, Garza-Garza LA, Villafuerte-de la Cruz RA, Garza-Leon M

Archivos de la Sociedad Espanola de Oftalmologia 2025; (100(11)):732-736 doi:10.1016/j.oftale.2025.08.005.

Neuropsychiatric Phenotype and Treatment Challenges in 47,XYY Syndrome: A Narrative Review with a Case Series of Adolescents.

D'Acunto MG, Bosetti C, Rinaldi D, et al.

Brain sciences 2026; (16(2)) doi:10.3390/brainsci16020232.

Jacob's Syndrome and Hearing Loss: A Case Study.

Bagheri H, Kouhi A, Alidoust M, Koravand A

Clinical case reports 2026; (14(3)):e72143 doi:10.1002/ccr3.72143.