Clinical cytogenetics: part 1.
This paper is an introduction to the cytogenetic biology of man. It deals with the role of chromosome abnormalities in prenatal death, malformation syndromes, mental retardation, malformation/mental retardation syndromes, abnormalities of sex determination, sex differentiation and sexual function, cancer, and certain genetic disorders in which chromosome abnormalities are seen commonly. Down syndrome is discussed as an important and common example of a malformation/mental retardation syndrome.
D000328:Adult; D000367:Age Factors; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D003582:Cytogenetics; D004314:Down Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D008297:Male; D012737:Sex Factors; D009626:Terminology as Topic