Abstract
The sex chromosomes show a much wider range of viable aneuploidy than do the autosomes, for several reasons. Each diploid somatic cell has only one active X, and most of the genes on any additional X chromosomes are inactivated. The Y chromosome contains very few genes. Mosaicism, with a normal cell line present, is much more common for sex chromosomes than for autosomes. Figure 19.1 summarizes the known nonmosaic numerical sex chromosome abnormalities. In addition to the examples in this figure, the chromosome constitution XYYYY has been found in a few highly abnormal individuals (Noël et al., 1988)..
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References
Blanco J, Rubio C, Simon C, et al. (1997) Increased incidence of disomic sperm nuclei in a 47,XYY male assessed by fluorescent in situ hybridization (FISH). Hum Genet 99:413–416
Delobel B, Djlelati R, Gabriel-Robez O, et al. (1998) Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum Genet 102:98–102
Gabriel-Robez O, Rumpier Y (1996) The meiotic pairing behavior in human spermatocyte carriers of chromosome anomalies and their repercussions on reproductive fitness. II. Robertsonian and reciprocal translocations. A European study. Ann Génét 39:17–25
Geerkens C, Just W, Held KR, et al. (1996) Ullrich-Turner syndrome is not caused by haploinsufficiency of RPS4X. Hum Genet 97:39–44
Goodman BK, Shaffer LG, Rutberg J, et al. (1998) Inherited duplication Xq27-qter at Xp22.3 in severely affected males: molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet 80:377–384
Guttenbach M, Michelman HW, Hinney B, et al. (1997) Segregation of sex chromosomes into sperm nuclei in a man with 47,XXY Klinefelter’s karyotype: a FISH analysis. Hum Genet 99:474–477
Hinney B, Engel W, Guttenbach M, et al. (1997) Pregnancy after intracytoplas-mic sperm injection with sperm from a man with a 47,XXY Klinefelter’s karyotype. Fertil Steril 68:718–720
Jacobs P, Dalton P, James R, et al. (1997) Turner syndrome: a cytogenetic and molecular study. Am J Hum Genet 61:471–483
Ledbetter DH, Ballabio A (1995) Molecular cytogenetics of contiguous gene syndromes: mechanisms and consequences of gene dosage imbalance. In: Scriver C, Beaudet AL, Sly WS, Valle, D (eds) The metabolic and molecular bases of inherited disease, 7th edn, McGraw-Hill, New York, pp 811–839
Madan K (1983) Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216–221
Madariaga ML, Rivera H (1997) Familial inv(X)(p22q22): ovarian dysgenesis in two sisters with del Xq and fertility in one male carrier. Clin Genet 52: 180–183
Mathur A, Stekol L, Schatz D, et al. (1991) The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype. Am J Hum Genet 48:682–686
Myles TD, Burd L, McCorquodale MM, et al. (1997) Dandy-Walker malformation in a fetus with pentasomy X (49,XXXXX) prenatally diagnosed by fluorescence in situ hybridization technique. Fetal Diagn Ther 10:333–336
Nielsen J, Homma A, Christiansen F, et al. (1977) Women with tetra-X (48,XXXX). Hereditas 85:151–156
Noël B, Bénézech M, Bouzon MT, et al. (1988) Un garçon de sept ans 49,XYYYY. Ann Génét 31:111–116
Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95:607–629
Rao E, Weiss B, Fukami M (1997) Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54–63
Shears DJ, Vassal HJ, Goodman FR, et al. (1998) Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 19:70–73
Skuse DH, James RS, Bishop DVM, et al. (1997) Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function. Nature 387:705–708
Speed RM (1986) Oocyte development in XO foetuses of man and mouse: the possible role of heterologous X-chromosome pairing in germ cell survival. Chromosoma 94:115–124
Speed RM (1988) The possible role of meiotic pairing anomalies in the atresia of human fetal oocytes. Hum Genet 78:260–266
Speed RM, Chandley AC (1990) Prophase of meiosis in human spermatocytes analysed by EM microspreading in infertile men and their controls and comparisons with human oocytes. Hum Genet 84:547–554
Terzoli G, Lalatta F, Lobbiani A, et al. (1992) Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821–822
Therman E, Susman B (1990) The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet 85: 175–183
Tuerlings JHAM, France HF de, Hamers A, et al. (1998) Chromosome studies in 1792 males prior to intra-cytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 6:194–200
Welch JP (1985) Clinical aspects of the XYY syndrome. In: Sandberg AA (ed) The Y chromosome, Part B. Clinical aspects of Y chromosome abnormalities. Liss, New York, pp 323–343
Zinn AR, Tonk VS, Chen Z, et al. (1998) Evidence for a Turner syndrome locus or loci at Xpl 1.2–p22.1. Am J Hum Genet 63:1757–1766
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Miller, O.J., Therman, E. (2001). Phenotypic Effects of Sex Chromosome Imbalance. In: Human Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4613-0139-4_19
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DOI: https://doi.org/10.1007/978-1-4613-0139-4_19
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