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Am J Med Genet A ; 185(11): 3236-3241, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34056828

RESUMO

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.


Assuntos
Citogenética/história , Síndrome de Klinefelter/genética , Transtornos dos Cromossomos Sexuais/genética , Síndrome de Turner/genética , Aberrações Cromossômicas , História do Século XX , Hospitais , Humanos , Síndrome de Klinefelter/diagnóstico , Síndrome de Klinefelter/história , Aberrações dos Cromossomos Sexuais , Transtornos dos Cromossomos Sexuais/diagnóstico , Transtornos dos Cromossomos Sexuais/história , Síndrome de Turner/diagnóstico , Síndrome de Turner/história
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