It Is 50 Years since the Discovery of the Male Determining Role of the Y Chromosome!

Ferguson‐Smith, Malcolm A.

doi:10.1159/000252792

Cited by 3 publications

(2 citation statements)

References 35 publications

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“…However, patients with the Turner syndrome proved to have a single X and no Y [ 47 ], while the Klinefelter patients had an XXY sex chromosome complement [ 48 ]. The result in Klinefelter syndrome confirmed an earlier observation of the Y in XY sex bivalents in spermatocytes from a lone fertile tubule in a sex chromatin-positive case [ 49 ] These findings provided the first evidence that in mammals sex was determined by a testis-determining factor on the Y chromosome (reviewed in [ 50 ]). There was widespread surprise that such gross genetic abnormalities could be viable in humans, and a search was made for other examples.…”

Section: Introductionsupporting

confidence: 82%

History and evolution of cytogenetics

Ferguson‐Smith

2015

Mol Cytogenet

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The events that have led to the development of cytogenetics as a specialty within the life sciences are described, with special attention to the early history of human cytogenetics. Improvements in the resolution of chromosome analysis has followed closely the introduction of innovative technology. The review provides a brief account of the structure of somatic and meiotic chromosomes, stressing the high conservation of structure in plants and animals, with emphasis on aspects that require further research. The future of molecular cytogenetics is likely to depend on a better knowledge of chromosome structure and function.

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Section: Introductionsupporting

confidence: 82%

History and evolution of cytogenetics

Ferguson‐Smith

2015

Mol Cytogenet

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“…The early papers on human sex chromosome abnormalities failed to make the comparison with the sex chromosome aneuploidies described by Calvin Bridges (40) in Drosophila over 25 years previously. He showed that XXY, XO, and XXX individuals with normal autosomal complements were female, male, and "superfemale," respectively (9).…”

Section: Early Chromosome Studies and Sex Determinationmentioning

confidence: 99%

Putting Medical Genetics into Practice

Ferguson-Smith

2011

Annu. Rev. Genom. Hum. Genet.

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This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.

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Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

Grinspon

Rey

2016

Sex Dev

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Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed.

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It Is 50 Years since the Discovery of the Male Determining Role of the Y Chromosome!

Cited by 3 publications

References 35 publications

History and evolution of cytogenetics

History and evolution of cytogenetics

Putting Medical Genetics into Practice

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects

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