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Partial trisomy 12q associated with a familial translocation
Author(s) -
Hemming Lorraine,
Brown Richard
Publication year - 1979
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.1399-0004.1979.tb00844.x
Subject(s) - chromosomal translocation , proband , partial trisomy , trisomy , genetics , long arm , biology , chromosome , karyotype , chromosome analysis , medicine , mutation , gene
A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.