Peer-Reviewed Journal Articles

Below is a selected list of X&Y chromosome variation publications in peer-reviewed journals and books lead by or including various members of our expert eXtraordinarY Kids Program team members:


2022 publications:

  • Howell, S., Davis, S. M., Thompson, T., Brown, M., Tanda, T., Kowal, K., Alston, A., Ross, J., & Tartaglia, N. R. (2022). Noninvasive prenatal screening (NIPS) results for participants of the eXtraordinarY babies study: Screening, counseling, diagnosis, and discordance. Journal of Genetic Counseling, 00, 1– 10. link to article


  • Thompson, T., Stinnett, N., Tartaglia, N., Davis, S., Janusz, J. ’I wish the school had a better understanding of the diagnosis’: Parent perspectives on educational needs for students with sex chromosome aneuploidies. Journal of Research Special Education Needs. 2022 April 22(2): 175-187. PMID: 35529320; PMCID: PMC9074887.

2021 publications:

  • Howell S, Buchanan C, Davis SM, Miyazawa H, Furuta GT, Tartaglia NR, Nguyen N. Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications. Mol Genet Genomic Med. 2021 Nov 5:e1833. doi: 10.1002/mgg3.1833. PMID: 34738344 link to article


  • Howell, S, Buchanan, C, Davis, S, Miyazawa, H, Furuta, GT, Tartaglia, NR, Nguyen, N. Eosinophilic Esophagitis in Individuals with Sex Chromosome Aneuploidies: Clinical Presentations and Management Implications. Molecular Genetics and Genomics Medicine. 2021 Dec; 9(12):e1833. PMID: 34738344; PMCID: PMC8683639. Link to article


  • Bouw, N., Swaab, H., Tartaglia, N., & van Rijn, S. (2021, June). The impact of sex chromosome trisomies (XXX, XXY, XYY) on early social cognition: Social orienting, joint attention, and theory of mind. Archives of Clinical Neuropsychology, [published online ahead of print] acab042. doi:10.1093/arclin/acab042. PMID: 34101798. link to article


  • Urbanus, E., Swaab, H., Tartaglia, N., Boada, R., & van Rijn, S. (2021, August). A cross sectional study of early language abilities in children with sex chromosome trisomy (XXY, XXX, XYY) aged 1-6 years. Child Neuropsychology, [published online ahead of print], 1-26. doi:10.1080/09297049.2021.1960959. PMID: 34346838. Link to article

2020 publications:

  • Thompson, T, Howell, S, Davis, S, Wilson, R, Janusz, J, Boada, R, Pyle, L, Tartaglia, N. A current survey of early childhood intervention services in infants and young children with sex chromosome aneuploidies. American Journal of Medical Genetics Part C, 2020 June, PMID 32475986. 
  • Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):428-443. doi: 10.1002/ajmg.c.31807. Epub 2020 Jun 7. PMID: 32506668; PMCID: PMC7413625. Link to article


Earlier publications:

  • Davis S, Lahlou N, Cox-Martin M, Kowal K, Zeitler P, Ross J. Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome. Journal of Clinical Endocrinology and Metabolism, Jun 2018, PMID 29931143


  • Sydney Martin, Lisa Cordeiro, Pamela Richardson, Shanlee Davis & Nicole Tartaglia (2018): The Association of Motor Skills and Adaptive Functioning in XXY/ Klinefelter and XXYY Syndromes, Physical & Occupational Therapy In Pediatrics, DOI: 10.1080/01942638.2018.1541040link to article


  • Davis S, Cox-Martin M, Bardsley M, Kowal K, Zeitler P, Ross J. Effects of Low-Dose Androgen Therapy on Cardiometabolic Health in Children with Klinefelter syndrome: Results of a Two-Year, Double-Blind, Placebo-Controlled Trial, Journal of Clinical Endocrinology and Metabolism, Jan 2017, 102(1):176-184. PMID 27802097.


  • Ross J, Kushner H, Kowal K, Bardsley M, Davis S, Reiss A, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition and Behavior in Boys with Klinefelter Syndrome. Journal of Pediatrics, Jun 2017, 185: 193-199. PMID 28285751


  • Tartaglia T, Wilson R, Miller J, Rafalko J, Cordeiro L, Davis S, Hessl D, Ross J. Autism Spectrum Disorders in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY, Journal of Developmental-Behavioral Pediatrics, April 2017, 38(3): 197-207. PMID 28333849


  • S Davis, S Howell, R Wilson, T Tanda, J Ross, P Zeitler, N Tartaglia, “Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome,” Adv Pediatr. 2016 Aug 63(1):15-46. (PMID: 27426894) link to article


  • Davis S, Lahlou N, Bardsley M, Temple MC, Kowal K, Pyle L, Zeitler P, Ross J. Gonadal Function is Associated with Cardiometabolic Health in Prepubertal Boys with Klinefelter Syndrome. Andrology, Nov 2016, 4(6): 1169-1177. PMID 27637014


  • K Wigby, C D'Epagnier, S Howell, A Reicks, R Wilson, L Cordeiro, N Tartaglia, “Expanding the Phenotype of Triple X Syndrome: A Comparison of Prenatal vs. Postnatal Diagnosis,” American Journal of Medical Genetics Part A, 2016 Sep 19 (PMID: 27644018) link to article


  • J Ross, N Tartaglia, DE Merry, M Dalva, AR Zinn, “Behavioral Phenotypes of Males with XYY and Possible Role of Increased NLGN4Y Expression in Autism Features,” Genes, Brain, & Behavior, 2015, Jan 5 [epub ahead of print]. (PMID 25558953)


  • Davis S, Rogol A, Ross J. Testis Development and Reproductive Options in Boys with Klinefelter Syndrome. Endocrinology and Metabolism Clinics of North America, Dec 2015, 44(4); 843-65, PMID 26568497


  • Davis S, Rogol A, Ross J. Testis Development and Reproductive Options in Boys with Klinefelter Syndrome. Endocrinology and Metabolism Clinics of North America, Dec 2015, 44(4); 843-65, PMID 26568497


  • A Dennis, S Howell, L Cordeiro, N Tartaglia, “How should I tell my child?– Disclosing the diagnosis of sex chromosome aneuploidies”, Journal of Genetic Counseling, 2015 Feb 24(1): 88-103, (PMID 25179748)


  • N Tartaglia, S Howell, R Wilson, J Janusz, R Boada, J Frazier, M Pfeiffer, S Martin, K Regan, S McSwegin, P Zeitler, “The eXtraordinarY Kids Clinic: A Model of Interdisciplinary Care for Children and Adolescents with Sex Chromosome Aneuploidy”, Journal of Multidisciplinary Health Care,2015  June 23. (PMID 26229481; PMCID PMC4514383) link to article


  • J Ross, D Roeltgen, H Kushner, A Zinn, A Reiss, E McCauley, N Tartaglia, “Behavioral and social phenotypes in boys with 47,XYY syndrome and 47,XXY Klinefelter syndrome,” Pediatrics, 2012 Apr 129(4):769-778 (PMID 22412026; PMCID PMC3356148)
  • K Hager, K Jennings, S Hosono, S Howell, J Gruen, S Rivkees, N Tartaglia, H Rinder, “Molecular Diagnostic Testing for Klinefelter Syndrome and Other Male Sex Chromosome Aneuploidies,” International Journal of Pediatric Endocrinology, 2012 April 23 (1): 8 (PMID 22524164; PMC3411476)

  • N Tartaglia, N Ayari, C Hutaff-Lee, R Boada, “ADHD symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XYY, XXX, and XXYY,” Journal of Developmental Behavioral Pediatrics, 2012 May 33(4):309-18 (PMID 22333574; PMCID PMC3348431) link to article


  • L Cordeiro, N Tartaglia, J Ross, “Social Deficits in Male Children and Adolescents with Sex Chromosome Aneuploidy: A comparison of XXY, XYY, and XXYY syndromes,” Research in Developmental Disabilities, 2012 July/Aug 33(4):1254-1263 (PMID 22502852; PMCID PMC3328784)
  • M Bardsley, K Kowal, C Levy, A Gosek, N Ayari, N Tartaglia, N Lahlou, JL Ross, “47,XYY: Clinical phenotype and timing of ascertainment” Journal of Pediatrics, 2013 Oct 163(4): 1085-94. (PMID 23810129; PMCID PMC 4097881)


  • J Visootsak, N Ayari, S Howell, J Lazarus, N Tartaglia, “Timing of Diagnosis of 47,XXY and 48,XXYY: A Survey of Parent Experiences,”American Journal of Medical Genetics, 2013 Feb 161(2):268-72 (PMID 23322622; PMCID PMC3558746) link to article



  • N TartagliaS Howell, N Ayari, C D'Epagnier, P Zeitler, “48,XXYY, 48,XXXY and 49,XXXXY syndromes: Not just variants of Klinefelter syndrome, Acta Paediatrica, 2011 Jun;100(6):851-60. (PMID 21342258; PMCID PMC3314712) link to article


  • N Tartaglia, L Cordiero, S Howell, R Wilson, J Janusz, ”The Spectrum of the Behavioral Phenotype in 47,XXY Klinefelter syndrome,” Pediatric Endocrine Reviews, 2010 Dec;8 Suppl 1:151-9 (PMID 21217607)


  • N Tartaglia, A Rogol, “Considerations for Androgen Therapy in Children and Adolescents with Klinefelter syndrome (47,XXY),” Pediatric Endocrine Reviews, 2010 Dec;8 Suppl 1:145-50 (PMID 21217606)


  • AM Ottesen, L Akslgaede, I Garn, N Tartaglia, F Tassone, CH Gravhold, A Bojesen, K Sorensen, N Jorgensen, E Rajpert-De Meyts, T Gerdes, AM Lind, S Kjaergaard, A Juul, “Increased copy number of the SHOX gene affects height in a non-linear and sex-dependent fashion,” American Journal of Medical Genetics Part A.  2010 May 152(5):1206-12 (PMID 20425825)
  • N Tartaglia, S Davis, A Hench, S Nimishakavi, R Beauregard, A Reynolds, L Fenton, L Albrecht, J Visootsak, J Ross, R Hansen, R Hagerman, “A New Look at XXYY Syndrome: Medical and Psychological Features,” American Journal of Medical Genetics, 2008, Jun 15;146A(12):1509-22 (PMID 18481271; PMCID PMC3056496) link to article


  • Visootsak J, Rosner B, Dykens E, Tartaglia N, Graham JM, “Behavioral Phenotype of Sex Chromosome Aneuploidies: 48,XXYY Compared to 48,XXXY and 49,XXXXY,” American Journal of Medical Genetics, 2007 Jun 1;143(11):1198-203 (PMID 17497714)


  • N Tartaglia, M Borodyanskya, D Hall, “Tremor in XXYY Syndrome,” Movement Disorders, 2009 Nov 24(13): 2001-07 (PMID 19705466; PMCID PMC3056502) link to article

Invited Review Papers Published in Peer-Reviewed Journals

R Boada, J Janusz, C Hutaff-Lee, N Tartaglia, “The Cognitive Phenotype in Klinefelter Syndrome: A Review of the Literature including Genetic and Hormonal Factors,” Developmental Disabilities Research Reviews, 2009 Dec 15(4):284-294 (PMID 20014369; PMCID PMC3056507)


N Tartaglia, S Howell, R Wilson, A Sutherland, L Wilson, “Trisomy X Syndrome: A Review,” Orphanet Journal of Rare Diseases, 2010 May 5:8. Distinguished as a “Highly Accessed” Article with over 78,000 views of open access version since publication. (PMID 20459843; PMCID PMC2883963) link to article

Invited Book Chapters

N Tartaglia, R Hansen, R Hagerman, “Advances in Genetics,” Chapter, Handbook of Developmental Disabilities, Eds. J Blacher, S. Odom, 2007, 98-128

R Wilson, S Howell, E Bennett, N Tartaglia, “Sex Chromosome Aneuploidies,” Chapter, The Handbook of Pediatric Neuropsychology, Ed. Andrew S Davis, 2010, Chapter 65 

N Tartaglia, J Visootsak, “Sex Chromosome Aneuploidy Disorders” Chapter, Autism and Other Neurodevelopmental Disorders, American Psychiatric Publishing, Eds Sally Rogers and Robin Hansen, 2013, 195-226

C Hutaff-Lee, L Cordeiro, N Tartaglia, “Cognitive and Medical Features of Chromosomal Aneuploidy,” Chapter, Handbook of Clinical Neurology, V. 111, Eds. O Dulac, M Lassonde, H Sarnat, 2013, 273-279 (PMID 23622175)

L Cordeiro, N Tartaglia, “Sex Chromosome Aneuploidy: XXYY” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, 2013, 369-371

K Messer, C D’Epagnier, S. Howell, N Tartaglia, “Sex Chromosome Aneuploidy: Trisomy X” Chapter in Brenner’s Encyclopedia of Genetics 2nd Edition, editors Stanley Maloy and Kelly Hughes, 2013, 195-197

S. Davis, A. Villagomez, S. Howell, C. Buchanan, N. Tartaglia. “48,XXYY Syndrome” Portal for Rare Diseases, 2018

Davis S and Ross J. “Klinefelter Syndrome.” Encyclopedia of Endocrine Diseases, 2nd Edition. Elsevier. Editor Ilpo Huhtaniemi. October 2018. ISBN 9780128121993

Davis S and Travers S. “Disorders of Puberty.” Endocrine Secrets, 7th Edition, Elsevier. Editor Michael McDermott. In Press