Premium
Familial balanced (7;11;21)translocation and Down's syndrome in two siblings
Author(s) -
Schwinger E.,
Mikkelen Margareta,
Niesen Mathilda
Publication year - 1975
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.1399-0004.1975.tb00333.x
Subject(s) - chromosomal translocation , supernumerary , genetics , biology , chromosome , mongoloid , down syndrome , medicine , gene , anatomy , population , environmental health
Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7 , 11 and 21 in the mother. One of three daughters has inherited this translocation; two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.