Sex Chromosome and X-Linked Disorders

  • Aubrey Milunsky


The discussion on sex chromosome and X-linked disorders is combined in one chapter because cytogenetic techniques used in diagnosis are common to both. The relatively few sex chromosome disorders occur commonly (see below) but are mostly not associated with fatality or severe mental retardation. In contrast, there are about 200 X-linked disorders (McKusick, 1978), many being fatal and associated with mental retardation or serious defects. Nevertheless, X-linked disorders still serve as an uncommon indication for prenatal diagnosis. (Table I) In our first 2000 prenatal diagnosis cases, 1.3% were in this category, an experience reflected in the Worldwide Survey data (see Chapter 5). One important explanation is that X-linked disorders are seen by physicians in all specialties, e.g., dermatology (Milunsky, 1973) and ophthalmology (Milunsky, 1974, 1977), who have not customarily thought about prenatal diagnosis and avoiding the birth of affected progeny.


Muscular Dystrophy Prenatal Diagnosis Chronic Granulomatous Disease Turner Syndrome Duchenne Muscular Dystrophy 


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Copyright information

© Aubrey Milunsky 1979

Authors and Affiliations

  • Aubrey Milunsky
    • 1
    • 2
    • 3
  1. 1.Department of PediatricsHarvard Medical SchoolBostonUSA
  2. 2.Genetics DivisionEunice Kennedy Shriver CenterWalthamUSA
  3. 3.Children’s ServiceMassachusetts General HospitalBostonUSA

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