En langue anglaise / English documentation

• Children's Hospital Colorado (clinique du Colorado) :  l'eXtraordinarY Kids Clinic est une unité médicale pluridisciplinaire unique pour les enfants atteints d'anomalie chromosomique X et Y.

==> Présentation du Docteur Nicole Tartaglia expliquant les variations du chromosome x et y (vidéo), 18 septembre 2015

• Association américaine - Genetic.org Knowledge, Support and Action (lien: KS&A’s mission is to help individuals with one or more extra X and/or Y chromosomes and their families lead fuller and more productive lives.

 

• xxxy syndrom summary    xxxy_summary.pdf xxxy_summary.pdf (source : Docteur Nicole Tartaglia du Children's Hospital Colorado - December 2008)

 

• 48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome  Not_just_variant.pdf Not_just_variant.pdf  (auteurs : Nicole Tartaglia, Natalie Ayari, Susan Howell, Cheryl D’Epagnier, Philip Zeitler --source : Acta Pædiatrica ISSN 0803–5253 -- date : 12 October 2010; revised 31 January 2011; accepted 16 February 2011)

 

Effects of short-course androgen therapy on the neurodevelopmental profile of infants and children with 49,XXXXY syndrome  Androgen-therapy.pdf Androgen-therapy.pdf  (auteurs : Carole A Samango-Sprouse, Andrea L Gropman, Teresa Sadeghin, Madison Kingery, Margaret Lutz-Armstrong,  Alan D Rogol -- source : Acta Pædiatrica ISSN 0803–5253 -- date : 1 October 2010; revised 7 February 2011; accepted 25 February 2011)

Special issue: medical and neurodevelopmental aspects of XXY and related multiple X conditions [Volume 163, issue 1, pages 1-71, American Journal of Medical Genetics Part C (Seminars in Medical Genetics)   15 February 2013]

• Introduction: Past, Present, and Future Care of Individuals With XXY   pdf 1 pdf 1  (auteurs : Samango-Sprouse CA, Gropman AL. -- Source : Am J Med Genet Part C Semin Med Genet 163C:1–2)

• Sexual Differentiation of the Brain in Man and Animals: Of Relevance to Klinefelter Syndrome?  pdf 2 pdf 2  (McCarthy MM. -- source : Am J Med Genet Part C Semin Med Genet 163C:3–15)

• Endocrinological issues and hormonal manipulation in children and men with Klinefelter syndrome  pdf 3 pdf 3 (auteurs : Wosnitzer MS &  Paduch DA. -- source : Am J Med Genet Part C 163C:16–26)

• Is it all the X: Familial learning dysfunction and the impact of behavioral aspects of the phenotypic presentation of XXY?  pdf 4pdf 4 (auteurs : Samango-Sprouse CA, Stapleton E, Sadeghin T, Gropman AL. -- source : Am J Med Genet Part C Semin Med Genet 163C:27–34)

• Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations  pdf 5 pdf 5  (auteurs :Gropman A, Samango-Sprouse CA. 2 -- source : Am J Med Genet Part C 163C:35–43)

• Musculoskeletal anomalies in a large cohort of boys with 49,XXXXY  pdf 6 pdf 6   (auteurs : Sprouse C, Tosi L, Stapleton E, Gropman AL, Mitchell FL, Peret R, Sadeghin T, Haskell K, Samango-Sprouse CA. -- source : Am J Med Genet Part C Semin Med Genet 163C:44–49)

• Immunodeficiency in patients with 49,XXXXY chromosomal variation  pdf 7 pdf 7  (auteurs : Keller MD, Sadeghin T, Samango-Sprouse C, Orange JS. -- source : AmJ Med Genet Part C Semin Med Genet163C:50–54)

• 47,XXY Klinefelter syndrome: Clinical characteristics and age-specific recommendations for medical management  pdf 8 pdf 8   (auteurs : Aksglaede L, Link K, Giwercman A, Jørgensen N, Skakkebæk NE, Juul A. -- source : Am J Med Genet Part C Semin Med Genet 163C:55–63)