Article
An unbalanced translocation 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 associated with maternal isodisomy 18pter-->18q12.2.
Annales de genetique - 1 Jan 2000
de Ravel T J, Matthijs G, Fryns J
Abstract excerpt
We report a patient with a 46,XX,+der(18)t(18;21)(q12.2;q11.2)mat,-21 karyotype, in whom the rarely seen adjacent-2 segregation (according to the predicted pachytene diagram model) as well as two cross-overs, resulted in maternal isodisomy 18pter-->18q12.2.
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