L. Abramsky and J. Chapple, 47,XXY (KLINEFELTER SYNDROME) AND 47,XYY: ESTIMATED RATES OF AND INDICATION FOR POSTNATAL DIAGNOSIS WITH IMPLICATIONS FOR PRENATAL COUNSELLING, Prenatal Diagnosis, vol.37, issue.4, pp.363-371, 1997.
DOI : 10.1002/(SICI)1097-0223(199704)17:4<363::AID-PD79>3.0.CO;2-O

J. Nielsen and M. Wohlert, Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth defects original article series, pp.209-232, 1990.

J. Visootsak, J. Graham, and J. , Klinefelter syndrome and other sex chromosomal aneuploidies

S. Cabrol, Turner syndrome] Annales d'endocrinologie, pp.2-9, 2007.

J. Visootsak, N. Ayari, S. Howell, L. J. Tartaglia, and N. , Timing of diagnosis of 47,XXY and 48,XXYY: A survey of parent experiences, American Journal of Medical Genetics Part A, vol.143, issue.2, pp.268-72, 2013.
DOI : 10.1002/ajmg.a.35709

J. Visootsak, M. Aylstock, J. Graham, and J. , Kilnefelter Syndrome and Its Variants: An Update and Review for the Primary Pediatrician, Clinical Pediatrics, vol.40, issue.12, pp.639-51, 2001.
DOI : 10.1177/000992280104001201

M. Farrugia, N. Sebire, J. Achermann, A. Eisawi, P. Duffy et al., Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies, Journal of Pediatric Urology, vol.9, issue.2, pp.139-183, 2013.
DOI : 10.1016/j.jpurol.2011.12.012

A. Imai, S. Horibe, T. Fuseya, H. Takagi, A. Takagi et al., Detection of SRY in 45, X/47, XYY mosaicism leading to phenotypic female, Clinical Genetics, vol.73, issue.2, pp.124-130, 1997.
DOI : 10.1111/j.1399-0004.1997.tb02434.x

H. Cosper and P. , XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases American journal of medical genetics, pp.42-49, 1991.

S. Cabrol, C. Saab, M. Gourmelen, M. Raux-demay, L. Bouc et al., [Turner syndrome: spontaneous growth of stature, weight increase and accelerated bone maturation] Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, pp.313-321, 1996.

M. Ranke, H. Pfluger, W. Rosendahl, P. Stubbe, H. Enders et al., Turner syndrome: Spontaneous growth in 150 cases and review of the literature, European Journal of Pediatrics, vol.270, issue.2, pp.81-89, 1983.
DOI : 10.1007/BF00496795

J. Chaussain, F. C. , Y. T. Study, and G. , Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome, European journal of endocrinology / European Federation of Endocrine Societies, vol.164, issue.6, pp.891-898, 2011.

D. Price and M. Ranke, Growth hormone in Turner syndrome, Archives of Disease in Childhood, vol.84, issue.6, p.525, 2001.
DOI : 10.1136/adc.84.6.525m

M. Ranke, Why Treat girls with Turner Syndrome with Growth Hormone? Growth and Beyond. Pediatric endocrinology reviews : PER, pp.356-65, 2015.

J. Ross, P. Lee, R. Gut, and J. Germak, Impact of age and duration of growth hormone therapy in children with Turner syndrome. Hormone research in paediatrics, pp.392-401, 2011.

K. Wilhelmsen, Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome, Clinical endocrinology, vol.66, issue.5, pp.744-51, 2007.

M. Ranke and P. Saenger, Turner's syndrome, The Lancet, vol.358, issue.9278, pp.309-323, 2001.
DOI : 10.1016/S0140-6736(01)05487-3

M. Elsheikh, J. Wass, and G. Conway, Hypothyroidism is common in turner syndrome: results of a five-year follow-up. The Journal of clinical endocrinology and metabolism Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype, Clinical endocrinology, vol.9055, issue.212, pp.2131-5223, 2001.

M. Hultcrantz, K. Landin-wilhelmsen, A. Lin, B. Lippe, A. Pasquino et al., Recommendations for the diagnosis and management of Turner syndrome, Fifth International Symposium on Turner S, pp.3061-3070, 2001.

C. Bondy, Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency, Journal of autoimmunity, vol.38, issue.4, pp.315-336, 2012.

L. Snoeks, C. Weber, K. Wasland, J. Turner, C. Vainder et al., Tumor suppressor FOXO3 participates in the regulation of intestinal inflammation Laboratory investigation; a journal of technical methods and pathology, pp.1053-62, 2009.

K. Landin-wilhelmsen, I. Bryman, M. Windh, and L. Wilhelmsen, Osteoporosis and fractures in Turner syndrome-importance of growth promoting and oestrogen therapy, Clinical Endocrinology, vol.128, issue.4, pp.497-502, 1999.
DOI : 10.1046/j.1365-2796.1997.00163.x

P. Mikosch, H. Gallowitsch, E. Kresnik, and L. P. , Osteoporosis in Turner syndrome with chromosomal mosaicism A case report], Wiener medizinische Wochenschrift, vol.4546150, issue.12, pp.262-267, 2000.

K. Rubin, Turner syndrome and osteoporosis: mechanisms and prognosis, Pediatrics, vol.102, issue.2, pp.481-486, 1998.

J. Horovitz and R. Saura, Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases, Prenatal diagnosis, vol.24, issue.3, pp.213-221, 2004.

S. Christian, D. Koehn, R. Pillay, A. Macdougall, and R. Wilson, Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time, Prenatal Diagnosis, vol.29, issue.1, pp.37-40, 2000.
DOI : 10.1002/(SICI)1097-0223(200001)20:1<37::AID-PD748>3.0.CO;2-G

H. Nishimura, G. Sato, S. Matsuo, N. Ogata, and T. , Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome, The Journal of clinical endocrinology and metabolism, vol.84, issue.12, pp.4613-4634, 1999.

M. Tauber, N. Lounis, J. Coulet, C. Baunin, J. Cahuzac et al., Wrist anomalies in Turner syndrome compared with Leri-Weill dyschondrosteosis: a new feature in Turner syndrome, European Journal of Pediatrics, vol.163, issue.8, pp.475-81, 2004.
DOI : 10.1007/s00431-004-1471-4

M. Bruandet, N. Molko, L. Cohen, and S. Dehaene, A cognitive characterization of dyscalculia in Turner syndrome, Neuropsychologia, vol.42, issue.3, pp.288-98, 2004.
DOI : 10.1016/j.neuropsychologia.2003.08.007

M. Collaer, M. Geffner, F. Kaufman, B. Buckingham, and M. Hines, Cognitive and Behavioral Characteristics of Turner Syndrome: Exploring a Role for Ovarian Hormones in Female Sexual Differentiation, Hormones and Behavior, vol.41, issue.2, pp.139-55, 2002.
DOI : 10.1006/hbeh.2001.1751

J. Ross, G. Stefanatos, H. Kushner, A. Zinn, C. Bondy et al., Persistent cognitive deficits in adult women with Turner syndrome, Neurology, vol.58, issue.2, pp.218-243, 2002.
DOI : 10.1212/WNL.58.2.218

C. Ankarberg-lindgren, M. Elfving, K. Wikland, and E. Norjavaara, Nocturnal Application of Transdermal Estradiol Patches Produces Levels of Estradiol That Mimic Those Seen at the Onset of Spontaneous Puberty in Girls, Journal of Clinical Endocrinology & Metabolism, vol.86, issue.7, pp.3039-3083, 2001.
DOI : 10.1210/jc.86.7.3039

E. Bannink, H. Raat, P. Mulder, and S. De-muinck-keizer-schrama, Quality of Life after Growth Hormone Therapy and Induced Puberty in Women with Turner Syndrome, The Journal of Pediatrics, vol.148, issue.1, pp.95-101, 2006.
DOI : 10.1016/j.jpeds.2005.08.043

S. Keizer-schrama, Puberty induction in Turner syndrome: results of oestrogen treatment on development of secondary sexual characteristics, uterine dimensions and serum hormone levels

S. Piippo, H. Lenko, P. Kainulainen, and I. Sipila, Use of percutaneous estrogen gel for induction of puberty in girls with Turner syndrome. The Journal of clinical endocrinology and metabolism, pp.3241-3248, 2004.

O. Français and A. , 40. HAS. PNDS -ALD 31Syndrome de Turner". Service affections de longue durée et accords conventionnels. janvier 2008. 41. Hook EB, Hamerton JL. The frequency of chromosome in consecutive nexborn studies differences between studies -results by sex and phenotypic involvment, 1977.

S. Nanko, Personality Traits of 47, XYY and 47, XXY Males Found Among Juvenile Delinquents, Psychiatry and Clinical Neurosciences, vol.20, issue.1
DOI : 10.1016/S0140-6736(57)90616-5

D. Owen, The 47,XYY male: A review., Psychological Bulletin, vol.78, issue.3, pp.209-242, 1972.
DOI : 10.1037/h0033068

A. Bojesen, S. Juul, and C. Gravholt, Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. The Journal of clinical endocrinology and metabolism, pp.622-628, 2003.

J. Morris, E. Alberman, C. Scott, and P. Jacobs, Is the prevalence of Klinefelter syndrome increasing? European journal of human genetics : EJHG, pp.163-70, 2008.

N. Tartaglia, L. Cordeiro, S. Howell, R. Wilson, and J. Janusz, The spectrum of the behavioral phenotype in boys and adolescents 47,XXY (Klinefelter syndrome) Pediatric endocrinology reviews : PER, pp.151-160, 2010.

K. Stochholm, S. Juul, and C. Gravholt, Diagnosis and mortality in 47,XYY persons: a registry study, Orphanet Journal of Rare Diseases, vol.5, issue.1
DOI : 10.1186/1750-1172-5-15

C. Gravholt, A. Jensen, C. Host, and A. Bojesen, Body composition, metabolic syndrome and type 2 diabetes in Klinefelter syndrome, Acta Paediatrica, vol.58, issue.Suppl 113, pp.871-878, 2011.
DOI : 10.1111/j.1651-2227.2011.02233.x

C. Host, A. Skakkebaek, K. Groth, A. Bojesen, A. Bojesen et al., The role of hypogonadism in Klinefelter syndrome Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, Asian journal of andrology, vol.1622, issue.515, pp.185-911441, 2011.

H. Hasle, A. Mellemgaard, J. Nielsen, and J. Hansen, Cancer incidence in men with Klinefelter syndrome, British Journal of Cancer, vol.71, issue.2, pp.416-436, 1995.
DOI : 10.1038/bjc.1995.85

M. Humphreys, P. Lavery, C. Morris, and N. N. , Klinefelter Syndrome and Non-Hodgkin Lymphoma, Cancer Genetics and Cytogenetics, vol.97, issue.2, pp.111-114, 1997.
DOI : 10.1016/S0165-4608(96)00386-X

L. Aksglaede and A. Juul, Testicular function and fertility in men with Klinefelter syndrome: a review European journal of endocrinology / European Federation of Endocrine Societies, pp.67-76, 2013.

S. Cabrol, J. Ross, I. Fennoy, C. Bouvattier, M. Roger et al., Assessment of Leydig and Sertoli Cell Functions in Infants with Nonmosaic Klinefelter Syndrome: Insulin-Like Peptide 3 Levels Are Normal and Positively Correlated with LH Levels, The Journal of Clinical Endocrinology & Metabolism, vol.96, issue.4, pp.746-53, 2011.
DOI : 10.1210/jc.2010-2103

H. Glander, Infertility in the Klinefelter syndrome], MMW Fortschritte der Medizin, vol.147, issue.45, pp.39-41, 2005.

D. Denschlag, C. Tempfer, M. Kunze, G. Wolff, and C. Keck, Assisted reproductive techniques in patients with Klinefelter syndrome: A critical review, Fertility and Sterility, vol.82, issue.4, pp.775-784, 2004.
DOI : 10.1016/j.fertnstert.2003.09.085

M. Linden, B. Bender, R. Harmon, D. Mrazek, and R. A. , XXX: what is the prognosis?, Pediatrics, vol.4782, issue.4, pp.619-649, 1988.

S. Ratcliffe, Long-term outcome in children of sex chromosome abnormalities. Archives of disease in childhood, pp.192-197, 1999.

J. Rovet, C. Netley, J. Bailey, M. Keenan, and D. Stewart, Intelligence and achievement in children with extra X aneuploidy: a longitudinal perspective American journal of medical genetics, pp.356-63, 1995.

B. Liebezeit, T. Rohrer, H. Singer, and H. Doerr, Tall Stature as Presenting Symptom in a Girl with Triple X Syndrome, Journal of Pediatric Endocrinology and Metabolism, vol.16, issue.2, pp.233-238, 2003.
DOI : 10.1515/JPEM.2003.16.2.233

S. Ratcliffe, H. Pan, and M. Mckie, The growth of XXX females: population-based studies, Annals of Human Biology, vol.43, issue.4, pp.57-66, 1994.
DOI : 10.1080/03014469400003072

G. Galimberti, D. Morgese, G. Balestri, and P. , Electroencephalographic and epileptic patterns in X chromosome anomalies, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society, vol.21, issue.4, pp.249-53, 2004.

H. Lin, F. Ndiforchu, and S. Patell, Exstrophy of the cloaca in a 47,XXX child: review of genitourinary malformations in triple-X patients. American journal of medical genetics, pp.761-764, 1993.

R. Goswami, D. Goswami, M. Kabra, N. Gupta, S. Dubey et al., Prevalence of the triple X syndrome in phenotypically normal women with premature ovarian failure and its association with autoimmune thyroid disorders, Fertility and Sterility, vol.80, issue.4, pp.1052-1056, 2003.
DOI : 10.1016/S0015-0282(03)01121-X

A. Villanueva and R. Rebar, Triple-X syndrome and premature ovarian failure, Obstetrics and gynecology, vol.62, issue.3, pp.70-73, 1983.

E. Garne, B. Khoshnood, M. Loane, P. Boyd, H. Dolk et al., Termination of pregnancy for fetal anomaly after 23???weeks of gestation: a European register-based study, BJOG: An International Journal of Obstetrics & Gynaecology, vol.21, issue.6, pp.660-666, 2010.
DOI : 10.1111/j.1471-0528.2010.02531.x

R. Professionnelles, Agence de la Biomédecine pour le fonctionnement des Centres Pluridisciplinaires de Diagnostic Prénatal (CPDPN) Agence de la Biomédecine, Abortion. Legislation in Europe. IPPF. International Planned Parenthood Federation, vol.72, 2004.

S. Olshansky, J. Schonfield, and L. Sternfeld, Attitudes of some obstetricians toward mental retardation, Obstetrics and gynecology, vol.7519, pp.133-139, 1962.

J. Allen and L. Mulhauser, Genetic counseling after abnormal prenatal diagnosis: Facilitating coping in families who continue their pregnancies, Journal of Genetic Counseling, vol.12, issue.1, pp.251-65, 1995.
DOI : 10.1007/BF01408072

J. Lalor and C. Begley, to know?, Journal of Advanced Nursing, vol.316, issue.1, pp.11-20, 2006.
DOI : 10.1111/j.1365-2648.2006.03884.x

J. Lalor, C. Begley, and E. Galavan, Recasting Hope: a process of adaptation following fetal anomaly diagnosis. Social science & medicine, pp.462-72, 2009.

D. Zuskar, The Psycological Impact of Prenatal Diagnosis of Fetal Abnormality, Women & Health, vol.12, issue.1, pp.91-103, 1987.
DOI : 10.1300/J013v12n01_07

B. Khoshnood, C. De-vigan, V. Vodovar, J. Goujard, A. Lhomme et al., ??volution du diagnostic pr??natal, des interruptions de grossesse et de la mortalit?? p??rinatale des enfants avec cardiopathie cong??nitale, Journal de Gyn??cologie Obst??trique et Biologie de la Reproduction, vol.35, issue.5, pp.455-64, 1983.
DOI : 10.1016/S0368-2315(06)76417-1

M. Dupeyron, J. Lespinasse, M. Herbaut-graux, M. Till, V. Layet et al., Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome. Human reproduction, pp.2570-2575, 2011.

J. Chamberlain, P. Rogers, J. Price, S. Ginks, B. Nathan et al., VALIDITY OF CLINICAL EXAMINATION AND MAMMOGRAPHY AS SCREENING TESTS FOR BREAST CANCER, The Lancet, vol.306, issue.7943, pp.1026-1056, 1975.
DOI : 10.1016/S0140-6736(75)90304-9

J. Grant, The fetal heart rate trace is normal, isn't it?, The Lancet, vol.337, issue.8735, pp.215-223, 1991.
DOI : 10.1016/0140-6736(91)92169-3

D. Cicchetti and A. Feinstein, High agreement but low kappa: II. Resolving the paradoxes, Journal of Clinical Epidemiology, vol.43, issue.6
DOI : 10.1016/0895-4356(90)90159-M

A. Feinstein and D. Cicchetti, High agreement but low Kappa: I. the problems of two paradoxes, Journal of Clinical Epidemiology, vol.43, issue.6
DOI : 10.1016/0895-4356(90)90158-L

A. Viera and J. Garrett, Understanding interobserver agreement: the kappa statistic. Family medicine, pp.360-363, 2005.

B. Khoshnood, D. Vigan, C. Vodovar, V. Goujard, J. Lhomme et al., Trends in Prenatal Diagnosis, Pregnancy Termination, and Perinatal Mortality of Newborns With Congenital Heart Disease in France, 1983???2000: A Population-Based Evaluation, Pediatrics, vol.115, issue.1, pp.95-101, 1983.
DOI : 10.1542/peds.2004-0516

URL : https://hal.archives-ouvertes.fr/inserm-00108256

C. Gardou, Le handicap au risque des cultures: Editions Erès septembre, 2014.

E. Goffman and . Stigmates, Les usages sociaux du handicap. Paris: Editions de Minuit, 1975.

N. Elias and J. Scotson, Logique de l'exclusion. Paris: Fayard, 1997.

M. Olivier, The politics of disablement. Londres: Macmillan, 1990.

R. Murphy, Vivre à corps perdu. Paris: Pion, collection, Terre Humaine, 1990.

C. Gardou, Parents d'enfant handicapé: Editions Erès, 2015.
DOI : 10.3917/eres.gardo.2015.01

S. Korff-sausse, Le miroir brisé. L'enfant handicapé, sa famille et le psychanalyste

H. Lane, Quand l'esprit entend. Histoire des sourds et muets, 1991.

M. Olivier, Understanding disability : From theory to practice, 1996.
DOI : 10.1007/978-1-349-24269-6

R. Castel, La gestion des risques, de l'antipsychiatrie à l'après-analyse. Paris: Editions de Minuit, 1981.

. Paris, La documentation française, 1969.