Familial transmission of a ring chromosome 21

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A ring chromosome 21 was found in a phenotypically normal mother and her son. The clinical findings in the son were bilateral retention of the testes and a slightly delayed puberty onset. Consequences of a ring formation of a chromosome 21 in phenotypically normal patients are presented and discussed, and the previously reported cases of familially transmitted G-group ring chromosomes are reviewed.
TidsskriftClinical Genetics
Udgave nummer1
Sider (fra-til)35-9
Antal sider5
StatusUdgivet - 1987

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