The Principles of Clinical Cytogenetics - Extra Materials - Springer

Sex Chromosomes and Sex Chromosome Abnormalities 239
78. Neri, G. (1984) A possible explanation for the low incidence of gonosomal aneuploidy among the offspring of triplo-X
individuals. Am. J. Med. Genet. 18, 357–364.
79. Robinson, A., Bender, B.G., and Linden, M.G. (1991) Summary of clinical findings in children and young adults with
sex chromosome anomalies. Birth Defects: Original Article Series 26(4), 225–228.
80. Hook, E.B. (1979) Extra sex chromosomes and human behavior: The nature of evidence regarding XYY, XXY, XXYY,
and XXX genotypes, in Genetic Mechanisms of Sexual Development (Vallet, H.L. and Porter, I.Y., eds.), Academic
Press, New York, NY, pp. 437–463.
81. Linden, M.G., Bender, B.G., and Robinson, A. (2002) Genetic counseling for sex chromosome abnormalities. Am. J.
Med. Genet. 110, 3–10.
82. Bender, B.G., Harmon, R.J., Linden, M.G., and Robinson, A. (1995) Psychosocial adaptation of 39 adolescents with
sex chromosome abnormalities. Pediatrics 96, 302–308.
83. Bender, B.G., Linden, M.G., and Harmon, R.J. (2001) Life adaptation in 35 adults with sex chromosome abnormalities.
Genet. Med. 3, 187–191.
84. Harmon, R.J., Bender, B.G., Linden, M.G., and Robinson, A. (1998) Transition from adolescence to early adulthood:
adaptation and psychiatric status of women with 47,XXX. J. Am. Acad. Child Adolesc. Psychiatry 37, 286–291.
85. Ratcliffe, S. (1999) Long term outcome in children of sex chromosome abnormalities. Arch. Dis. Child. 80, 192–195.
86. Robinson, A., Bender, B.G., and Linden, M.G. (1992) Prognosis of prenatally diagnosed children with sex chromosome
aneuploidy. Am. J. Med. Genet. 44, 365–368.
87. Linden, M.G. and Bender, B.G. (2002) Fifty-one prenatally diagnosed children and adolescents with sex chromosome
abnormalities. Am. J. Med. Genet. 110, 11–18.
88. Linden, M.G., Bender, B.G., and Robinson, A. (1995) Sex chromosome tetrasomy and pentasomy. Pediatrics 96(4),
672–682.
89. Blackston, R.D., Grinzaid, K.S., and Saxe, D.F. (1994) Reproduction in 48,XXXX women. Am. J. Med. Genet. 52, 379.
90. Telfer, M.A., Richardson, C.E., Helmken, J., and Smith, G.F. (1970) Divergent phenotypes among 48,XXXX and
47,XXX females. Am. J. Hum. Genet. 22, 326–335.
91. Carr, D.H., Barr, M.L., and Plunkett, E.R. (1961) An XXXX sex chromosome complex in two mentally defective
females. Can. Med. Assoc. J. 84, 131–137.
92. Rooman, R.P., Van Driessche, K., and Du Caju, M.V. (2002) Growth and ovarian function in girls with 48,XXXX
karyotype—patient report and review of the literature. J. Pediatr Endocrinol. Metab. 15, 1051–1055.
93. Archidiacono, N., Rocchi, M., Valente, M., and Filippi, G. (1979) X pentasomy: a case review. Hum. Genet. 52, 69–77.
94. Sergovich, F., Vilenberg, C., and Pozaonyi, J. (1971) The 49,XXXXX condition. J. Pediatr. 78, 285.
95. Kesaree N. and Wooley, P.V. (1963) A phenotypic female with 49 chromosomes, presumable XXXXX. J. Pediatr. 63,
1099–1103.
96. Jones, K.L. (ed.) (1997) Smith’s Recognizable Patterns of Human Malformation. WB Saunders, Philadelphia.
97. Deng, H.-X., Abe, K., Kondo, I., et al. (1991) Parental origin and mechanisms of formation of polysomy X: an XXXXX
case and four XXXXY cases determined with RFLPs. Hum. Genet. 86, 541–544.
98. Leal, C.A., Belmont, J.W., Nachtman, R., Cantu, J.M., and Medina, C. (1994) Parental origin of the extra chromosomes
in polysomy X. Hum. Genet. 94, 423–426.
99. Boeck, A., Gfatter, R., Braun, F., and Fritz, B. (1999) Pentasomy X and hyper IgE syndrome: co-existence of two
distinct genetic disorders. Eur. J. Pediatr. 158, 723–726.
100. Klinefelter H.F., Reinfenstein, E.C., and Albright, F. (1942) Syndrome characterized by gynecomastia aspermatogenesis
without aleydigism and increased excretion of follicle-stimulating hormone. J. Clin. Endocrinol. Metab. 2, 615–627.
101. Jacobs, P.A. and Strong, J.A. (1959) A case of human intersexuality having a possible XXY sex-determining mechanism.
Nature 183, 302–303.
102. Yoshida, A., Kazukiyo, M., and Shirai, M. 1996. Chromosome abnormalities and male infertility. Assist. Reprod. Rev.
6, 93–99.
103. Nielsen, J. and Wohlert, M. (1991) Chromosome abnormalities found among 34,910 newborn children: results from a
13-year incidence study in Arhus, Denmark. Hum. Genet. 87, 81–83.
104. Jacobs, P.A., Hassold, T.J., Whittington, E., et al. (1988) Klinefelter’s syndrome: an analysis of the origin of the
additional sex chromosome using molecular probes. Ann. Hum. Genet. 52, 93–109.
105. Eskenazi, B., Wyrobek, A.J., Kidd, S.A., et al. (2002) Sperm aneuploidy in fathers of children with paternally and
maternally inherited Klinefelter syndrome. Hum. Reprod. 17, 576–583.
106. Robinson, A. and de la Chapelle, A. (1996) Sex chromosome abnormalities. In Emery and Rimoin’s Principles and
Practice of Medical Genetics, 3rd ed. (Rimoin, D.L., ed., Churchill Livingstone, New York.
107. Tachdjian, G., Frydman, N., Morichon-Delvallez, N., et al. Reproductive genetic counseling in non-mosaic 47,XXY
patients: implications for preimplantation or prenatal diagnosis: case report and review. Hum. Reprod. 18, 271–275.
108. Samango-Sprouse, C. (2001) Mental development in polysomy X Klinefelter syndrome (47,XXY; 48,XXXY): effects
of incomplete X inactivation. Semin. Reprod. Med. 19, 193–202.
109. Sorensen, K., Nielsen, J., Jacobsen, P., and Rolle, T. (1978) The 48,XXYY syndrome. J. Ment. Defic. Res. 22, 197–205.