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Unstable translocations: a new case?
Author(s) -
Mattina T.,
Milana G.,
D'Agata A.,
Conti L.,
Sciacca F.
Publication year - 1991
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.1399-0004.1991.tb03002.x
Subject(s) - chromosomal translocation , robertsonian translocation , karyotype , daughter , genetics , biology , chromosome , evolutionary biology , gene
A female patient with Down syndrome due to unbalanced Robertsonian translocation (14;21) is reported. A different Robertsonian translocation involving a chromosome no. 14 was observed in her father, who was a carrier of a balanced Robertsonian t(13;14), while the maternal karyotype was normal. Hypotheses about the origin of the translocation in the daughter are discussed.