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Cytogenetic Aspects of Brain Dysfunction

  • Lillian Y. F. Hsu
  • Kurt Hirschhorn

Abstract

The demonstration of the normal human chromosomal complement by Tjio and Levan in 1956(1) opened a new field of human genetics, i.e., Cytogenetics. (A normal male karyotype, 46,XY,* is shown in Fig. 1.) The rapid progress in human Cytogenetics during the past 15 years has resulted not only in delineation of a wide variety of syndromes but also in demonstration of the causal relationship between various chromosomal abnormalities and phenotypic manifestations. Mental retardation is a constant and obvious finding in all autosomal unbalanced aberrations. In sex chromosome aberrations, mental deficiency, although frequently found in individuals with greater than normal numbers of X or Y chromosomes, occurs to a lesser degree than in autosomal aberrations. This difference is now understandable on the basis that only one X chromosome is genetically active in somatic cells and any extra X chromosome material in excess of one is inactivated during early life.(2)

Keywords

Brain Dysfunction Pericentric Inversion Group Chromosome Amniotic Fluid Cell Autosomal Trisomy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Plenum Press, New York 1973

Authors and Affiliations

  • Lillian Y. F. Hsu
    • 1
  • Kurt Hirschhorn
    • 1
  1. 1.Department of Pediatrics, Division of Medical GeneticsThe Mount Sinai School of Medicine of the City University of New YorkNew YorkUSA

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