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X-Linked Diseases and Disorders of the Sex Chromosomes

  • Chapter
Genetic Disorders and the Fetus

Abstract

The human X chromosome constitutes one of the most intensively examined stretches of genetic material in a higher eukaryote. This is probably the result of certain technical features that facilitate the study and recognition of X-linked genes, the relative frequency of X-linked disorders as a group, and the quantitative importance of several specific conditions, such as Duchenne muscular dystrophy and hemophilia. It has been relatively easy to recognize X-encoded mutant genes by virtue of their typical pattern of inheritance, and several X-linked diseases have been known since antiquity. Clear descriptions of X-linked pedigrees of hemophilia, color blindness, ichthyosis, muscular dystrophy, nystagmus, and ectodermal dysplasia antedate the postulation of Mendel’s laws and the recognition of sex chromosomes (McKusick, 1983). More than 120 X-linked single-gene Mendelian human conditions have been catalogued. The vertical transmission of traits through a number of generations affecting only males, but involving carrier females, and the absence of male-to-male transmission have come to be appreciated as the hallmark of this form of inheritance. Since a single copy of a mutant gene in males is sufficient to produce disease, it is not uncommon to find many affected individuals in a single pedigree in addition to many at-risk women, creating significant complexities in genetic counseling.

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  1. Division of Medical Genetics and Department of Pediatrics, Harbor/UCLA Medical Center, UCLA School of Medicine, Torrance, California, 90509, USA

    David B. Rogers & Larry J. Shapiro

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  1. Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts, USA

    Aubrey Milunsky MB.B.Ch., D.Sc., F.R.C.P., D.C.H. (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director) (Professor of Pediatrics, Obstetrics and Gynecology, and Pathology, Director)

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© 1986 Aubrey Milunsky

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Rogers, D.B., Shapiro, L.J. (1986). X-Linked Diseases and Disorders of the Sex Chromosomes. In: Milunsky, A. (eds) Genetic Disorders and the Fetus. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-5155-9_11

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