Prenatal diagnosis of an extra der(4) resulting from a complex maternal chromosome translocation.
We report the prenatal diagnosis of an extra der(4) resulting from 4:2 malsegregation of a maternal balanced complex translocation involving chromosomes 4, 10, and 11. The woman was referred for amniocentesis because of recurrent miscarriages. Fluorescence in situ hybridization was performed in order to characterize the complex chromosome rearrangement. Following genetic counselling, the couple decided to terminate the pregnancy.
Migliori
Maria Valeria
MV
Centre of Medical Genetic and Prenatal Diagnosis, Az.Osp, G.Salesi, Ancona, Italy. salgenan@infinito.it
Pettinari
Antonella
A
Ciaschini
Anna Maria
AM
Piermattei
Paola
P
Pigliapoco
Francesco
F
Discepoli
Giancarlo
G
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10; D002880:Chromosomes, Human, Pair 11; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic