Premium
Familial transmission of a ring chromosome 21
Author(s) -
Hertz J. M.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb03320.x
Subject(s) - ring chromosome , genetics , chromosome , ring (chemistry) , biology , karyotype , chemistry , gene , organic chemistry
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.