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Am J Med Genet A ; 185(11): 3236-3241, 2021 11.
Article in English | MEDLINE | ID: mdl-34056828

ABSTRACT

An account is given of the introduction of human cytogenetics to the Division of Medical Genetics at Johns Hopkins Hospital, and the first 3 years' work of the chromosome diagnostic laboratory that was established at the time. Research on human sex chromosome disorders, including novel discoveries in the Turner and Klinefelter syndromes, is described together with original observations on chromosome behavior at mitosis. It is written in celebration of the centenary of the birth of Victor McKusick, the acknowledged father of Medical Genetics, who established the Division and had the foresight to ensure that it included the investigation of human chromosomes.


Subject(s)
Cytogenetics/history , Klinefelter Syndrome/genetics , Sex Chromosome Disorders/genetics , Turner Syndrome/genetics , Chromosome Aberrations , History, 20th Century , Hospitals , Humans , Klinefelter Syndrome/diagnosis , Klinefelter Syndrome/history , Sex Chromosome Aberrations , Sex Chromosome Disorders/diagnosis , Sex Chromosome Disorders/history , Turner Syndrome/diagnosis , Turner Syndrome/history
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