Section IV Genetic Disorders Associated with Overgrowth

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Schibler D. , Brook CG , Kind HP , et al. Growth and body proportions in 54 boys and men with Klinefelter syndrome. Helv Paediatr Acta. 1974;29: 325-333.

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Jacobs PA , Hassold TJ , Whittington E. , et al. Klinefelter syndrome: an analysis of the origin of the additional sex chromosome using molecular probes. Ann Hum Genet. 1988;52(Pt 2):93-109.

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Owen DR Psychological studies in XYY men. In: Vallet HL , Porter IH , eds. Genetic Mechanisms of Sexual Development. New York: Academic; 1979; 465-471.

Baghdassarian A. , Bayard F. , Borgaonkar DS , et al. Testicular function in XYY men. Johns Hopkins Med J. 1975; 136:15-24.

Fryns JP , Kleczkowska A. , Petit P. , van den Berghe H. X-chromosome polysomy in the female: personal experience and review of the literature. Clin Genet. 1983;23:341-349.

Nielsen J. , Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects: Original Article Series. 1990;26:209-223.

Itu M. , Neelam T. , Ammini AC , Kucheria K. Primary amenorrhoea in a triple X female. Aust NZJ Obstet Gynaecol. 1990;30:386-388.

Barr ML , Sergovich FR , Carr DH , Saver EL The triple-X female: an appraisal based on a study of 12 cases and a review of the literature. Can Med Assoc J. 1969;101:247-258.

Robinson A. , Lubs HA , Nielsen J. , Sorensen K. Summary of clinical findings: profiles of children with 47,XXY, 47,XXX and 47,XYY karyotypes. Birth Defects: Original Article Series. 1979; 15:261-266.

Stewart DA , Netley CT , Park E. Summary of clinical findings of children with 47,XXY, 47,XYY, and 47,XXX karyotypes . Birth Defects: Original Article Series. 1982;18:1-5.

May KM , Jacobs PA , Lee M. , et al. The parental origin of the extra X chromosome in 47,XXX females . Am J Hum Genet. 1990;46:754-761.

Simpson JL Genetics of sexual differentiation. In: Carpenter SEK , Rock JA , eds. Pediatric and Adolescent Gynecology. New York: Raven Press; 1992:1.

Ratcliffe SG , Pan H. , McKie M. The growth of XXX females: population-based studies. Ann Hum Biol. 1994; 21:57-66.

Borghgraef M. , Fryns JP , van den Berghe H. The female and the fragile X syndrome: data on clinical and psychological findings in 7 fra(X) carriers . Clin Genet. 1990;37:341-346.

WeffTP, Bundey SE , Thake AI , Todd J. Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet. 1986;23:573-580.

Martin JP , Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry. 1943;6:151-154.

Lubs HA A marker X chromosome. Am J Hum Genet. 1969 ;21:231-244.

Sutherland GR Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium. Science. 1977;197: 265-266.

Rousseau F. , Heitz D. , Biancalana V. , et al. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991;325: 1673-1681.

Tarleton JC , Saul RA Molecular genetic advances in fragile X syndrome . J Pediatr. 1993;122:169-185.

Sherman SL , Jacobs PA , Morton NE , et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet. 1985;69:289-299.

Sherman SL , Turner G. , Robinson H. , Laing S. Investigation of the segregation of the fragile X mutation in daughters of obligate carrier women. Am J Med Genet. 1988 ;30:633-639.

Butler MG , Brunschwig A. , Miller LK , Hagerman RJ Standards for selected anthropometric measurements in males with the fragile X syndrome. Pediatrics. 1992;89 (6 Pt 1):1059-1062.

Hagerman RJ Physical and behavioral phenotype. In: Hagerman RJ , Silverman AC , eds. Fragile X Syndrome: Diagnosis, Treatment, and Research. Baltimore: Johns Hopkins Press; 1991:3-68.

Wiegers AM , Curfs LM , Vermeer EL , Fryns JP Adaptive behavior in the fragile X syndrome: profile and development. Am J Med Genet. 1993 ;47:216-220.

Hagerman RJ , Jackson C. , Amiri K. , Silverman AC Girls with fragile X syndrome: physical and neurocognitive status and outcome. Pediatrics. 1992; 89:395-400.

Prouty LA , Rogers RC , Stevenson RE , et al. Fragile X syndrome: growth, development, and intellectual function . Am J Med Genet. 1988;30:123-142.

Freund LS , Reiss AL , Abrams MT Psychiatric disorders associated with fragile X in the young female. Pediatrics. 1993;91:321-329.

Stalder GR , Buhler EM, Weber Jr. Possible trisomy in chromosome group 6-12. Lancet. 1963;1:1379.

Schinzel A. , Biro Z. , Schmid W. , Hayashi K. Trisomy 8 mosaicism syndrome. Helv Paediatr Acta. 1974;29:531-540.

Riccardi VM Trisomy 8: an international study of 70 patients . Birth Defects: Original Article Series. 1977;13: 171-184.

Rosengren SS , Cassidy SB Chromosone 8, Trisomy 8. In: Buyse ML , ed. Birth Defects Encyclopedia. Cambridge, MA: Blackwell Scientific Publications ; 1990:351-352.

Mattei JF , Mattei MG , Ardissone JP , et al. Clinical, enzyme, and cytogenetic investigations in three new cases of trisomy 8p. Hum Genet. 1980;53:315-321.

Davee MA , Weaver DD Chromosome 8, trisomy 8p (2449). In: Buyse ML , ed. Birth Defects Encyclopedia. Cambridge, MA: Blackwell Scientific Publications; 1990:352-353.