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A familial 10/13 translocation: partial trisomy C in an infant associated with familial 10/13 translocation
Author(s) -
Mulcahy Marie T.,
Jenkyn Joy,
Masters P. L.
Publication year - 1974
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.1399-0004.1974.tb02256.x
Subject(s) - chromosomal translocation , partial trisomy , trisomy , genetics , biology , chromosome , karyotype , gene
An abnormal infant, who died aged 17 d, was found on chromosome examination, to be a partial trisomy C. Clinical and post‐mortem findings are described. Cytogenetic investigation of the family demonstrated the presence of a presumably balanced C/D translocation which had been transmitted through four generations. Fluorescent banding techniques later identified the chromosomes involved in the translocation as being numbers 10 and 13.