Chromosomal Abnormalities and Neurocutaneous Disorders

Bruce O. Berg

History and Definitions Chromosomal Anomalies

Autosomal Abnormalities Sex Chromosomal Abnormalities Neurocutaneous Disorders Autosomal Dominant Diseases Autosomal Recessive Disease Unknown Inheritance Patterns Reviews and Selected Updates References


During the last several decades, information about chromosomal abnormalities has increased rapidly. Until recently, however, identified aberrations were limited to quantitative abnormalities of increased or decreased chromosomal material. Newer techniques have enabled us to identify numerous deletions and highly specific duplications, or translocations, which ultimately result in qualitative abnormalities of genes. Recombinant DNA techniques provide powerful tools for the definition of inherited neurological diseases and allow us to identify and define regulatory events that are the basis of cellular differentiation and embryogenesis.

Cognitive impairment is the primary neurological ramification of chromosomal abnormalities; however, most early reports of this finding were based on the study of individuals who were severely retarded. Ihese individuals may have had multiple congenital anomalies with or without associated chromosomal disorders. Furthermore, various chromosomal anomalies may occur in seemingly normal adults with no obvious intellectual deficits.

This chapter focuses first on a number of clinical syndromes in which there are conspicuous neurological sequelae of chromosomal abnormalities and then on the most common neurocutaneous syndromes.


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