6 research outputs found
Detection Of Metabolic Syndrome Features Among Childhood Cancer Survivors: A Target To Prevent Disease
Along with the growing epidemic of obesity, the risk of atherosclerosis, cardiovascular disease morbidity, and mortality are increasing markedly. Several risk factors for cardiovascular disease, such as visceral obesity, glucose intolerance, arterial hypertension, and dyslipidemia commonly cluster together as a condition currently known as metabolic syndrome. Thus far, insulin resistance, and endothelial dysfunction are the primary events of the metabolic syndrome. Several groups have recommended clinical criteria for the diagnosis of metabolic syndrome in adults. Nonetheless, in what concerns children and adolescents, there are no unified definitions, and modified adult criteria have been suggested by many authors, despite major problems. Some pediatric disease states are at risk for premature cardiovascular disease, with clinical coronary events occurring very early in adult life. Survivors of specific pediatric cancer groups, particularly acute lymphocytic leukemia, central nervous system tumors, sarcomas, lymphomas, testicular cancer, and following bone marrow transplantation, may develop metabolic syndrome traits due to: hormonal deficiencies (growth hormone deficiency, thyroid dysfunction, and gonadal failure), drug or radiotherapy damage, endothelial impairment, physical inactivity, adipose tissue dysfunction, and/or drug-induced magnesium deficiency. 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The Use Of Growth Hormone To Treat Endocrine-metabolic Disturbances In Acquired Immunodeficiency Syndrome (aids) Patients [o Papel Do Hormônio De Crescimento No Tratamento Dos Distúrbios Endócrino-metabólicos Do Paciente Com A Síndrome Da Imunodeficiência Adquirida (aids)]
Acquired Immunodeficiency Syndrome (Aids) was initially related to HIV-associated wasting syndrome, and its metabolic disturbances to altered body composition. After Highly Active Antiretroviral Therapy (HAART ) was started, malnutrition has declined and HIV-associated lipodystrophy syndrome has emerged as an important metabolic disorder. Aids is also characterized by hormonal disturbances, principally in growth hormone/insulin-like growth factor 1 (GH/IGF-1) axis. The use of recombinant human GH (hrGH) was formerly indicated to treat wasting syndrome, in order to increase lean body mass. Even though the use of hrGH in lipodystrophy syndrome has been considered, the decrease in insulin sensitivity is a limitation for its use, which has not been officially approved yet. Diversity in therapeutic regimen is another limitation to its use in Aids patients. 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GH/GHRH axis in HIV lipodystrophy. Pituitary. 2008 Feb 13 [Epub ahead of print]Viganò, A., Mora, S., Brambilla, P., Schneider, L., Merlo, M., Monti, L.D., Impaired growth hormone secretion correlates with visceral adiposity in highly active antiretroviral treated HIV- infected adolescents (2003) Aids, 17, pp. 1435-1441Van Rossum, A.M.C., Gaaker, M.I., Verweel, G., Hartwig, N.G., Wolfs, T.F., Geelen, S.P., Endocrinology and immunologic factors associated with recovery of growth in children with human immunodeficiency virus type 1 infection treated with protease inhibitors (2003) Pediatric Infect Dis J, 22, pp. 70-76Schambelan, M., Mulligan, K., Grunfeld, C., Daar, E.S., LaMarca, A., Kotler, D.P., Recombinant human growth hormone in patients with HIV-associated wasting. A randomized, placebo-controlled trial. Serostim Study Group (1996) Ann Intern Med, 125, pp. 873-882Krentz, A.J., Koster, F.T., Crist, D.M., Finn, K., Johnson, L.Z., Boyle, P.J., Anthropometric, metabolic, and immunological effects of recombinant human growth hormone in Aids and Aids-related complex (1993) J Acquir Immune Defic Syndr, 6, pp. 245-251McNurlan, M.A., Garlick, P.J., Steigbigel, R.T., DeCristofaro, K.A., Frost, R.A., Lang, C.H., Responsiveness of muscle protein synthesis to growth hormone administration in HIV-infected individuals declines with severity of disease (1997) J Clin Invest, 100, pp. 2125-2132Waters, D., Danska, J., Hardy, K., Koster, F., Qualls, C., Nickell, D., Recombinant human growth hormone, insulin-like growth factor 1, and combination therapy in Aids-associated wasting: A randomized, double-blind, placebocontrolled trial (1996) Ann Intern Med, 125, pp. 865-872Esposito, J.G., Thomas, S.G., Kingdon, L., Ezzat, S., Growth hormone treatment improves peripheral muscle oxygen extraction-utilization during exercise in patients with human immunodeficiency virus-associated wasting: A randomized controlled trial (2004) J Clin Endocrinol Metab, 89, pp. 5124-5131Moyle, G.J., Daar, E.S., Gertner, J.M., Kotler, D.P., Melchior, J.C., O'Brien, F., Serono 9037 Study Team. Growth hormone improves lean body mass, physical performance, and quality of life in subjects with HIV-associated weight loss or wasting on highly active antiretroviral therapy (2004) J Acquir Immune Defic Syndr, 35, pp. 367-375Storer, T.W., Woodhouse, L.J., Sattler, F., Singh, A.B., Schroeder, E.T., Beck, K., A randomized, placebocontrolled trial of nandrolone decanoate in human immunodeficiency virus-infected men with mild to moderate weight loss with recombinant human growth hormone as active reference treatment (2005) J Clin Endocrinol Metab, 90, pp. 4474-4482Wanke, C., Gerrior, J., Kantaros, J., Coakley, E., Albrecht, M., Recombinant human growth hormone improves the fat redistribution syndrome (lipodystrophy) in patients with HIV (1999) Aids, 13, pp. 2099-2103Zeitler, P.S., Travers, S., Kappy, M.S., Advances in the recognition and treatment of endocrine complications in children with chronic illness (1999) Adv Pediatr, 46, pp. 101-149Napolitano, L.A., Schmidt, D., Gotway, M.B., Ameli, N., Filbert, E.L., Ng, M.M., Growth hormone enhances thymic function in HIV-infected adults (2008) J Clin Invest, 118, pp. 1085-109
Short Stature In Chronic Kidney Disease: Physiopathology And Treatment With Growth Hormone [baixa Estatura Na Doença Renal Crônica: Fisiopatologia E Tratamento Com Hormônio De Crescimento]
Growth failure is frequent and a clinically important issue in children with chronic kidney disease (CKD). Many factors contribute to impaired growth in these children, including abnormalities in the growth hormone (GH) - insulin-like growth factor 1 (IGF-1) axis, malnutrition, acidosis, renal bone disease and glucocorticoid associated treatment. The management of growth failure in children with CKD is complicated by the presence of other-disease related complications requiring medical intervention. Despite evidence of GH efficacy and safety in this population, this therapy is still underutilized. This review shows the impact, the causes and the treatment of growth failure in children with CKD. copyright© ABE&M todos os direitos reservados.525783791K/DOQI clinical practice guidelines for chronic kidney disease: Evaluation, classification, and stratification (2002) Am J Kidney Dis, 39 (2 SUPPL. 1), pp. S1-266. , National Kidney FoundationChesney, R.W., Brewer, E., Moxey-Mims, M., Watkins, S., Furth, S.L., Harmon, W.E., Report of NIH task force on research priorities in chronic kidney disease in children (2006) Pediatr Nephrol, 21, pp. 14-25NAPRTCS Annual Report, , https://web.emmes.com/study/ped/annlrept/annlrept2005.pdf, acesso em 2005, Disponível emSeikaly, M.G., Salhab, N., Warandy, B.A., Stablein, D., Use o hrGH in children with chronic kidney disease: Lessons from NAPRTCS (2007) Pediatr Nephrol, 22, pp. 1195-1204Mahesh, S., Kaskel, F., Growth hormone axis in chronic kidney disease (2008) Pediatr Nephrol, 23, pp. 41-48Gorman, G., Frankenfield, D., Linear growth in pediatric hemodialysis patients (2008) Pediatr Nephrol, 23, pp. 123-127Ulinski, T., Cochat, P., Longitudinal growth in children following kidney transplantation: From conservative to pharmacological strategies (2006) Pediatr Nephrol, 21, pp. 903-909Vimalanchandra, D., Hodson, E.M., Willis, N.S., Craig, J.C., Cowell, C., Knight, J.F., Growth hormone for children with chronic kidney disease (Cochrane Review) (2006) Cochrane Database Syst Rev, 19. , CD003264Williams, R., Growth hormone underutilized in pediatric hemodialysis population (2006) Nat Clin Pract Nephrol, p. 2. , Disponível em: doi:10.1038/ncpneph0081Mahan, J.D., Warady, B.A., Assessment and treatment of short stature in pediatric patients with chronic kidney disease: A consensus statement (2006) Pediatr Nephrol, 21, pp. 917-930Lewis, M., Shaw, J., Reid, C., Evans, J., Webb, N., Verrier-Jones, K., Growth in children with established renal failure: A registry analysis (2007) Nephrol Dial Transplant, 22, pp. 76-180Tom, A., McCauley, L., Bell, L., Rodd, C., Espinosa, P., Yu, G., Growth during maintenance hemodialysis: Impact of enhanced nutrition and clearance (1999) J Pediatr, 134, pp. 464-471Roth, K.S., Duncan, L.L., Chan, J.C., The role of nutrition in chronic renal insufficiency of childhood: How much do we know? (2005) Crit Rev Food Sci Nutr, 45, pp. 259-263Jarkovská, Z., Hodková, M., Sazamová, M., Rosická, M., Dusilová-Sulková, S., Marek, J., Plasma levels of active and total ghrelin in renal failure: A relationship with GH/IGF-1 axis (2005) Growth Horm IGF Res, 15, pp. 369-376Mak, R.H., Cheung, W., Cone, R.D., Marks, D.L., Orexygenic and anorexygenic mechanisms in the control of nutrition in chronic kidney disease (2005) Pediatr Nephrol, 20, pp. 427-431Rees, L., Shaw, W., Nutrition in children with CRF and on dialysis (2007) Pediatr Nephrol, 22, pp. 1689-1702Graf, L., Candelaria, S., Doyle, M., Kaskel, F., Nutrition assessment and hormonal influences on body composition in children with chronic kidney disease (2007) Adv Chronic Kidney Dis, 14, pp. 215-223Uauy, R.D., Hogg, R.J., Brewer, E.D., Reisch, J.S., Cunningham, C., Holliday, M.A., Dietary and growth in infants with chronic renal insufficiency: A report from the Southwest Pediatric Nephrology Study Group and the University of California, San Francisco (1994) Pediatr Nephrol, 8, pp. 45-50Lane, P.H., Puberty and chronic kidney disease (2005) Adv Chronic Kidney Dis, 12, pp. 372-377Hokken-Koelega, A.C., Saenger, P., Cappa, M., Greggio, N., International Workshop on Management of Puberty for Optimum Auxological Results. Unresolved problems concerning optimal therapy of puberty in children with chronic renal diseases (2001) J Pediatr Endocrinol Metab, 14 (SUPPL. 2), pp. 945-952Langman, C.B., Renal osteodystrophy: A pediatric perspective, 2005 (2005) Growth Horm IGF Res, 15 (SUPPL. A), pp. 42-47Santos, F., Carbajo-Pérez, E., Rodríguez, J., Fernández-Fuente, M., Molinos, I., Amil, B., Alterations of the growth plate in chronic renal failure (2005) Pediatr Nephrol, 20, pp. 330-334Rabkin, R., Sun, D.F., Chen, Y., Tan, J., Shaefer, F., Growth hormone resistance in uremia: A role of impaired JAK/STAT signaling (2005) Pediatr Nephrol, 20, pp. 313-318Roelfsema, V., Clark, R.G., The growth hormone and insulin-like growth factor axis: Its manipulation for the benefit of growth disorders in renal failure (2001) J Am Soc Nephrol, 12, pp. 1297-1306Tonshoff, B., Kiepe, D., Ciarmatori, S., Growth hormone/insulin-like growth factor system in children with chronic renal failure (2005) Pediatr Nephrol, 20, pp. 279-289Smink, J.J., Buchholz, I.M., Hamers, N., van Tilburg, C.M., Christis, C., Sakkers, R.J., Short-term glucocorticoid treatment of piglets causes changes in growth plate morphology and angiogenesis (2003) Osteoarthritis Cartilage, 11, pp. 864-871Jux, C., Leiber, K., Hügel, U., Blum, W., Ohlsson, C., Klaus, G., Dexamethasone impairs growth hormone (GH)-stimulated growth by suppression of local insulin-like growth factor (IGF)-I production and expression of GH- and IGF-I-receptor in cultured rat chondrocytes (1998) Endocrinology, 139, pp. 3296-3305Klaus, G., Jux, C., Fernandez, P., Rodriguez, J., Himmele, R., Mehls, O., Suppression of growth plate chondrocyte proliferation by corticosteroids (2000) Pediatr Nephrol, 14, pp. 612-615Koedam, J.A., Hoogerbrugge, C.M., van Buul-Offers, S.C., Differential regulation of IGF-binding proteins in rabbit costal chondrocytes by IGF-I and dexamethasone (2000) J Endocrinol, 165, pp. 557-567Smink, J.J., Koedam, J.A., Koster, J.G., van Buul-Offers, S.C., Dexamethasone-induced growth inhibition of porcine growth plate chondrocytes is accompanied by changes in levels of IGF axis components (2002) J Endocrinol, 174, pp. 343-352Oliveira, J.C., Machado Neto, F.A., Morcilo, A.M., Oliveira, L.C., Belangero, V.M.S., Gelonese Neto, B., Insuficiência renal crônica e hormônio de crescimento: Efeitos no eixo GH-IGFe na leptina. (2005) Arq Bras Endocrinol Metab, 49, pp. 964-970Mehls, O., Himmele, R., Hömme, M., Kiepe, D., Klaus, G., The interaction of glucocorticoids with the growth hormone-insulin-like growth factor axis and its effects on growth plate chondrocytes and bone cells (2001) J Pediatr Endocrinol Metab, 14 (SUPPL. 6), pp. 1475-1482Jonsson, K.B., Ljunghall, S., Karlström, O., Johansson, A.G., Mallmin, H., Ljunggren, O., Insulin-like growth factor I enhances the formation of type I collagen in hydrocortisone-treated human osteoblasts (1993) Biosci Rep, 13, pp. 297-302Klare, B., Strom, T.M., Hahn, H., Engelsberger, I., Meusel, E., Illner, W.D., Remarkable long-term prognosis and excellent growth in kidney-transplant children under cyclosporine monotherapy (1991) Transplant Proc, 23, pp. 1013-1017Shampiro, R., Scantlebury, V.P., Jordan, M.L., Vivas, C., Ellis, D., Lombardozzi-Lane, S., Pediatric renal transplantation under tacrolimus-based immunosuppression (1999) Transplantation, 67, pp. 299-303Mehls, O., Ritz, E., Skeletal growth in experimental uremia (1983) Kidney Int, 21 (SUPPL.), pp. 53-62Haffner, D., Schaefer, F., Does recombinant growth hormone improve adult height in children with chronic renal failure? (2001) Semin Nephrol, 21, pp. 490-497Fine, R.N., Stablein, D., Long-term use of recombinant growth hormone in pediatric allograft recipients: A report from the NAPTRCS Transplant Registry (2005) Pediatr Nephrol, 20, pp. 404-408Crompton, C.H., Australian and New Zeland Paediatric Nephrology Association. Long-term recombinant human growth hormone use in Australian children with renal disease (2004) Nephrology (Carlton), 9, pp. 325-330Andre, J.L., Bourquard, R., Guillemin, F., Krier, M.J., Briancon, S., Final height in children with chronic renal failure who have not received growth hormone (2003) Pediatr Nephrol, 18, pp. 685-689Mehls, O., Lindberg, A., Nissel, R., Wühl, E., Schaefer, F., Tönshoff, B., Growth hormone treatment in short children with chronic kidney disease (2007) Growth hormone therapy in pediatrics, pp. 407-421. , Ranke MB, Price DA, Reiter EO, editores, Basel: Karger;Guest, G., Berard, E., Crosnier, H., Chevallier, T., Rappaport, R., Broyer, M., Effects of growth hormone in short children after renal transplantation. French Society of Pediatric Nephrology (1998) Pediatr Nephrol, 12, pp. 437-446Fine, R.N., Ho, M., Tejani, A., Blethen, S., Adverse events with hrGH treatment of patients with chronic renal insufficiency and end-stage renal disease (2003) J Pediatr, 142, pp. 539-545Fine, R.N., Stablein, D., Cohen, A.H., Tejani, A., Kohaut, E., Recombinant human growth hormone post-renal transplantation in children: A randomized controlled study of the NAPRTCS (2002) Kidney Int, 62, pp. 688-69
The Use Of Fluorescence In Situ Hybridization In The Diagnosis Of Hidden Mosaicism: Apropos Of Three Cases Of Sex Chromosome Anomalies [o Uso Da Hibridação In Situ Com Fluorescência No Diagnóstico De Mosaicismo Oculto: A Propósito De Três Casos De Anomalias De Cromossomos Sexuais]
FISH has been used as a complement to classical cytogenetics in the detection of mosaicism in sex chromosome anomalies. The aim of this study is to describe three cases in which the final diagnosis could only be achieved by FISH. Case 1 was an 8-year-old 46,XY girl with normal female genitalia referred to our service because of short stature. FISH analysis of lymphocytes with probes for the X and Y centromeres identified a 45,X/46,X,idic(Y) constitution, and established the diagnosis of Turner syndrome. Case 2 was a 21-month-old 46,XY boy with genital ambiguity (penile hypospadias, right testis, and left streak gonad). FISH analysis of lymphocytes and buccal smear identified a 45,X/46,XY karyotype, leading to diagnosis of mixed gonadal dysgenesis. Case 3 was a 47,XYY 19-year-old boy with delayed neuromotor development, learning disabilities, psychological problems, tall stature, small testes, elevated gonadotropins, and azoospermia. FISH analysis of lymphocytes and buccal smear identified a 47,XYY/48,XXYY constitution. Cases 1 and 2 illustrate the phenotypic variability of the 45,X/46,XY mosaicism, and the importance of detection of the 45,X cell line for proper management and follow-up. In case 3, abnormal gonadal function could be explained by the 48,XXYY cell line. The use of FISH in clinical practice is particularly relevant when classical cytogenetic analysis yields normal or uncertain results in patients with features of sex chromosome aneuploidy. © ABEM todos os direitos reservados.568545551Nielsen, J., Wohlert, M., Sex chromosome abnormalities found among 34,910 newborn children: Results from a 13-year incidence study in Arhus, Denmark (1990) Birth Defects Orig Artic Ser, 26 (4), pp. 209-223Li, X., Sex chromosomes and sex chromosome abnormalities (2011) Clin Lab Med, 31 (4), pp. 463-479Sørensen, K., Nielsen, J., Jacobsen, P., Rølle, T., The 48, XXYY syndrome (1978) J Ment Defic Res, 22 (3), pp. 197-205Kleczkowska, A., Fryns, J.P., Van den Berghe, H., X-chromosome polysomy in the male. The Leuven experience 1966-1987 (1988) Hum Genet, 80 (1), pp. 16-22Linden, M.G., Bender, B.G., Robinson, A., Intrauterine diagnosis of sex chromosome aneuploidy (1996) Obstet Gynecol, 87 (3), pp. 468-475Ottesen, A.M., Aksglaede, L., Garn, I., Tartaglia, N., Tassone, F., Gravholt, C.H., Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidy (2010) Am J Med Genet A, 152 A (5), pp. 1206-1212Tartaglia, N., Ayari, N., Howell, S., D'Epagnier, C., Zeitler, P., 48, XXYY, 48, XXXY and 49, XXXXY syndromes: Not just variants of Klinefelter syndrome (2011) Acta Paediatr, 100 (6), pp. 851-860Oliveira, R.M., Verreschi, I.T., Lipay, M.V., Eça, L.P., Guedes, A.D., Bianco, B., Y chromosome in Turner syndrome: Review of the literature (2009) Sao Paulo Med J, 127 (6), pp. 373-378Barros, B.A., Maciel-Guerra, A.T., De Mello, M.P., Coeli, F.B., Carvalho, A.B., Viguetti-Campos, N., The inclusion of new techniques of chromosome analysis has improved the cytogenetic profile of Turner syndrome (2009) Arq Bras Endocrinol Metab, 53 (9), pp. 1137-1142Ogata, T., Matsuo, N., Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features (1995) Hum Genet, 95, pp. 607-609Tsuchiya, K.D., Fluorescence in situ hybridization (2011) Clin Lab Med, 31 (4), pp. 525-542Sallai, A., Sólyom, J., Dobos, M., Szabó, J., Halász, Z., Ságodi, L., Y-chromosome markers in Turner syndrome: Screening of 130 patients (2010) J Endocrinol Invest, 33 (4), pp. 222-227Wiktor, A.E., Van Dyke, D.L., Detection of low level sex chromosome mosaicism in Ullrich-Turner syndrome patients (2005) Am J Med Genet A, 138 (3), pp. 259-261Garcia-Quevedo, L., Blanco, J., Sarrate, Z., Català, V., Bassas, L., Vidal, F., Hidden mosaicism in patients with Klinefelter's syndrome: Implications for genetic reproductive counselling (2011) Hum Reprod, 26 (12), pp. 3486-3493Westlander, G., Ekerhovd, E., Granberg, S., Hanson, L., Hanson, C., Bergh, C., Testicular ultrasonography and extended chromosome analysis in men with nonmosaic Klinefelter syndrome: A prospective study of possible predictive factors for successful sperm recovery (2001) Fertil Steril, 75, pp. 1102-1105Schoubben, E., Decaestecker, K., Quaegebeur, K., Danneels, L., Mortier, G., Cornette, L., Tetrasomy and pentasomy of the X chromosome (2011) Eur J Pediatr, 170 (10), pp. 1325-1327Shouman, N., Pabst, B., Arslan-Kirchner, M., Eckardt, A., Schönweiler, R., Ptok, M., Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach (2003) Int J Oral Maxillofac Surg, 32 (2), pp. 198-200Mendonca, B.B., Domenice, S., Arnhold, I.J., Costa, E.M., 46, XY disorders of sex development (DSD) (2009) Clin Endocrinol (Oxf), 70 (2), pp. 173-187Rocha, V.B., Guerra-Júnior, G., Marques-de-Faria, A.P., de Mello, M.P., Maciel-Guerra, A.T., Complete gonadal dysgenesis in clinical practice: The 46, XY karyotype accounts for more than one third of cases (2011) Fertil Steril, 96 (6), pp. 1431-1514Hawkins, J.R., Taylor, A., Goodfellow, P.N., Migeon, C.J., Smith, K.D., Berkovitz, G.D., Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis (1992) Am J Hum Gen, 51, pp. 979-984Ferraz-de-Souza, B., Lin, L., Achermann, J.C., Steroidogenic factor-1 (SF-1, NR5A1) and human disease (2011) Mol Cell Endocrinol, 336 (1-2), pp. 198-205Soardi, F.C., Coeli, F.B., Maciel-Guerra, A.T., Guerra-Junior, G., Mello, M.P., Complete XY gonadal dysgenesis due to p. D293N homozygous mutation in the NR5A1 gene: A case study (2010) J Appl Genet, 51, pp. 223-224Cools, M., Drop, S.L., Wolffenbuttel, K.P., Oosterhuis, J.W., Looijenga, L.H., Germ cell tumors in the intersex gonad: Old paths, new directions, moving frontiers (2006) Endocr Rev, 27 (5), pp. 468-484Bondy, C.A., Turner Syndrome Study Group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab, 92, pp. 10-25Lindhardt Johansen, M., Hagen, C.P., Rajpert-De Meyts, E., Kjærgaard, S., Petersen, B.L., Skakkebæk, N.E., 45, X/46, XY mosaicism: Phenotypic characteristics, growth, and reproductive function-A retrospective longitudinal study (2012) J Clin Endocrinol Metab, 97 (8), pp. E1540-E1549Bettio, D., Venci, A., Rizzi, N., Negri, L., Setti, P.L., Clinical and molecular cytogenetic studies in three infertile patients with mosaic rearranged Y chromosomes (2006) Hum Reprod, 21 (4), pp. 972-975Hsu, L.Y., Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases (1994) Am J Med Genet, 53, pp. 108-140Nazarenko, S.A., Timoshevsky, V.A., Sukhanova, N.N., High frequency of tissue-specific mosaicism in Turner syndrome patients (1999) Clin Genet, 56 (1), pp. 59-65Spencer, D.A., Eyles, J.W., Mason, M.K., XYY syndrome, and XYY/XXYY mosaicism also showing features of Klinefelter's syndrome (1969) J Med Genet, 6, pp. 159-165Stochholm, K., Juul, S., Gravholt, C.H., Diagnosis and mortality in 47, XYY persons: A registry study (2010) Orphanet J Rare Dis, 5, p. 15Tartaglia, N., Davis, S., Hench, A., Nimishakavi, S., Beauregard, R., Reynolds, A., A new look at XXYY syndrome: Medical and psychological features (2008) Am J Med Genet A, 146 (12), pp. 1509-1522Hook, E.B., Exclusion of chromosome mosaicism: Tables of 90 percent, 95 percent and 99 percent confidence limits and comments on use (1977) Am J Hum Genet, 29, pp. 94-97McCorquodal, M.M., Bowdle, F.C., Two pregnancies and the loss of the 46, XX cell line in a 45, X/46, XX Turner mosaic patient (1985) Fertil Steril, 43, pp. 229-233Gravholt, C.H., Friedrich, U., Nielsen, J., Chromosomal mosaicism: A follow-up study of 39 unselected children found at birth (1991) Hum Genet, 88, pp. 49-52Schad, C.R., Kuffel, D.G., Wyatt, W.A., Zinsmeister, A.R., Jenkins, R.B., Dewald, G.W., Application of fluorescent in situ hybridization with X and Y chromosome specific probes to buccal smear analysis (1996) Am J Med Genet, 66 (2), pp. 187-19