Research & Literature

Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX.

van Rijn S, Swaab H

Genes, brain, and behavior 2015; (14(2)):200-8 doi:10.1111/gbb.12203.

45,X/47,XXX Mosaicism and Short Stature.

Everest E, Tsilianidis LA, Haider A, et al.

Case reports in pediatrics 2015; (2015()):263253 doi:10.1155/2015/263253.

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies.

Bianchi DW, Chudova D, Sehnert AJ, et al.

JAMA 2015; (314(2)):162-9 doi:10.1001/jama.2015.7120.

Children with sex chromosome trisomies: parental disclosure of genetic status.

Gratton NC, Myring J, Middlemiss P, et al.

European journal of human genetics : EJHG 2016; (24(5)):638-44 doi:10.1038/ejhg.2015.168.

X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome.

Liu K, Kurien BT, Zimmerman SL, et al.

Arthritis & rheumatology (Hoboken, N.J.) 2016; (68(5)):1290-1300 doi:10.1002/art.39560.

Triple X syndrome and puberty: focus on the hypothalamus-hypophysis-gonad axis.

Stagi S, di Tommaso M, Scalini P, et al.

Fertility and sterility 2016; (105(6)):1547-53.

Confined placental mosaicism and its impact on confirmation of NIPT results.

Mardy A, Wapner RJ

American journal of medical genetics. Part C, Seminars in medical genetics 2016; (172(2)):118-22 doi:10.1002/ajmg.c.31505.

Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosis.

Wigby K, D'Epagnier C, Howell S, et al.

American journal of medical genetics. Part A 2016; (170(11)):2870-2881 doi:10.1002/ajmg.a.37688.

High Myopia Associated with Triple X Syndrome.

Nishi T, Ogata N

Neuro-ophthalmology (Aeolus Press) 2016; (40(3)):136-138 doi:10.3109/01658107.2016.1167922.

A finding in genetic polymorphism analysis study: A case of non-mosaic 47, XXX without manifestations.

Yang X, Ye Z, Zhang X, et al.

Legal medicine (Tokyo, Japan) 2017; (27()):38-42 doi:10.1016/j.legalmed.2017.06.006.

Age-Related Loss of Cohesion: Causes and Effects.

Cheng JM, Liu YX

International journal of molecular sciences 2017; (18(7)) doi:10.3390/ijms18071578.

Generation of integration-free induced pluripotent stem cells (GZHMUi001-A) by reprogramming peripheral blood mononuclear cells from a 47, XXX syndrome patient.

Chen Y, Ou Z, Song B, et al.

Stem cell research 2017; (23()):57-60 doi:10.1016/j.scr.2017.06.002.

Human female meiosis revised: new insights into the mechanisms of chromosome segregation and aneuploidies from advanced genomics and time-lapse imaging.

Capalbo A, Hoffmann ER, Cimadomo D, et al.

Human reproduction update 2017; (23(6)):706-722 doi:10.1093/humupd/dmx026.

Sex chromosome aneuploidies.

Skuse D, Printzlau F, Wolstencroft J

Handbook of clinical neurology 2018; (147()):355-376 doi:10.1016/B978-0-444-63233-3.00024-5.

Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review.

Martin RJ, Smith G, Hughes J, Morrison PJ

American journal of medical genetics. Part A 2018; (176(4)):1029 doi:10.1002/ajmg.a.38624.

Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform.

Tian Y, Zhang L, Tian W, et al.

Molecular cytogenetics 2018; (11()):49 doi:10.1186/s13039-018-0397-x.

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Tuke MA, Ruth KS, Wood AR, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):877-886 doi:10.1038/s41436-018-0271-6.

Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

So PL, Cheng YKY, Cheuk KY, et al.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2019; (144(3)):314-316 doi:10.1002/ijgo.12737.

Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.

Berglund A, Viuff MH, Skakkebæk A, et al.

Orphanet journal of rare diseases 2019; (14(1)):16 doi:10.1186/s13023-018-0976-2.

Autism and social anxiety in children with sex chromosome trisomies: an observational study.

Wilson AC, King J, Bishop DVM

Wellcome open research 2019; (4()):32 doi:10.12688/wellcomeopenres.15095.2.

Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience.

Suwannachat S, Wattanasirichaigoon D, Arunakul J, et al.

Journal of community genetics 2020; (11(2)):171-181 doi:10.1007/s12687-019-00435-6.

Family experiences and attitudes about receiving the diagnosis of sex chromosome aneuploidy in a child.

Riggan KA, Close S, Allyse MA

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):404-413 doi:10.1002/ajmg.c.31781.

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.

Evaluating the Scope of Language Impairments in a Patient with Triple X Syndrome: A Brief Report.

van Elst PC, Otter M, Wijnen F, Junge C

Developmental neurorehabilitation 2020; (23(6)):402-406 doi:10.1080/17518423.2020.1764652.

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.

Sund KL, Khattar D, Boomer T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):294-301 doi:10.1002/ajmg.c.31783.

Adaptive functioning in children and adolescents with Trisomy X: An exploratory analysis.

Wigby K, Cordeiro L, Wilson R, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):456-468 doi:10.1002/ajmg.c.31803.

The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

Xu J, Xue Y, Wang J, et al.

International journal of genomics 2020; (2020()):2145701 doi:10.1155/2020/2145701.

Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases.

Lu X, Wang C, Sun Y, et al.

Molecular cytogenetics 2021; (14(1)):1 doi:10.1186/s13039-020-00521-2.

Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report.

Yamazaki S, Akutsu Y, Shimbo A, et al.

Pediatric rheumatology online journal 2021; (19(1)):20 doi:10.1186/s12969-021-00507-3.

Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences.

Riggan KA, Gross B, Close S, et al.

Journal of genetic counseling 2021; (30(5)):1407-1417 doi:10.1002/jgc4.1407.

Unravelling complex mosaicism of sex chromosomes in a patient with primary amenorrhea through cytogenetic analysis on urothelial cells.

Sevilla-Montoya R, Zavaleta-Abreu MJ, Queipo G, et al.

Taiwanese journal of obstetrics & gynecology 2021; (60(3)):526-529 doi:10.1016/j.tjog.2021.03.025.

The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic study.

Berglund A, Stochholm K, Gravholt CH

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(2)):475-487 doi:10.1016/j.gim.2021.10.012.

Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

Aliberti L, Gagliardi I, Bigoni S, et al.

Journal of community genetics 2022; (13(3)):271-280 doi:10.1007/s12687-022-00585-0.

Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case series.

Dell'Isola GB, Mencaroni E, Prontera P, et al.

Seizure 2022; (102()):32-35 doi:10.1016/j.seizure.2022.09.010.

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case report.

Liang D, Han M, Xu L, et al.

Medicine 2022; (101(43)):e31443 doi:10.1097/MD.0000000000031443.

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Dungan JS, Klugman S, Darilek S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(2)):100336 doi:10.1016/j.gim.2022.11.004.

Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factor.

Otter M, Campforts BCM, Stumpel CTRM, et al.

European psychiatry : the journal of the Association of European Psychiatrists 2022; (66(1)):e7 doi:10.1192/j.eurpsy.2022.2355.

Relationships among maternal monosomy X mosaicism, maternal trisomy, and discordant sex chromosome aneuploidies.

Tang X, Du Y, Chen M, et al.

Clinica chimica acta; international journal of clinical chemistry 2024; (554()):117770 doi:10.1016/j.cca.2024.117770.

Communication of the diagnosis to Klinefelter subjects: an observational study on a key moment of the patient's life.

Garolla A, Kiesswetter M, Angelini S, et al.

Journal of endocrinological investigation 2024; (47(8)):2029-2039 doi:10.1007/s40618-024-02302-9.

An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X.

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

American journal of medical genetics. Part C, Seminars in medical genetics 2024; e32083 doi:10.1002/ajmg.c.32083.

Association of genetic variation on X chromosome with systemic lupus erythematosus in both Thai and Chinese populations.

Tangtanatakul P, Lei Y, Jaiwan K, et al.

Lupus science & medicine 2024; (11(1)) doi:10.1136/lupus-2023-001061.

Performance of noninvasive prenatal screening for fetal sex chromosome aneuploidies in a cohort of 116,862 pregnancies.

Xu Y, Lou J, Qian Y, et al.

Expert review of molecular diagnostics 2024; (24(5)):467-472 doi:10.1080/14737159.2024.2333951.

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.

Exercise-Induced Pulmonary Hemorrhage in a Non-Athletic Child: Implications for Military Recruits.

Oliver A, Boster J, Warren W, Welsh S

Military medicine 2025; (190(3-4)):e858-e861 doi:10.1093/milmed/usae209.

Medical Findings in Infants Prenatally Identified with Sex Chromosome Trisomy in Year One of Life.

Tartaglia N, Davis S, Howell S, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.07.10.24310206.

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.

Militaru MS, Babliuc IM, Bloaje-Florică VL, et al.

Journal of personalized medicine 2024; (14(7)) doi:10.3390/jpm14070774.

Refractory Thrombotic Thrombocytopenic Purpura in a Patient With Triple X Syndrome.

da Rocha Ribas PA, Ghiraldi J, Gugelmin G, et al.

Cureus 2024; (16(8)):e67631 doi:10.7759/cureus.67631.

Cell-Free Fetal DNA for Prenatal Screening of Aneuploidies and Autosomal Trisomies: A Systematic Review.

Belabbes KB, Tufanisco EB, Sheth CC

International journal of pediatrics 2024; (2024()):3037937 doi:10.1155/2024/3037937.

Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.

Palmer AK, Tan IJ

ACR open rheumatology 2025; (7(1)):e11778 doi:10.1002/acr2.11778.

Discrepancies Between Sex Prediction and Fetal Sex After Prenatal Noninvasive Cell-Free DNA Screening.

Witchel SF, Rajkovic A, Yatsenko SA

Journal of the Endocrine Society 2025; (9(2)):bvaf007 doi:10.1210/jendso/bvaf007.

Brain structure in triple X syndrome: regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype.

Domes G, Croyé MA, Freilinger P, et al.

Journal of neurodevelopmental disorders 2025; (17(1)):18 doi:10.1186/s11689-025-09608-6.