Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literature.
In this report we present a malformed female newborn with partial trisomy 20q who was the unbalanced product of a paternal 8p/20q translocation (46,XY,t(8;20) (p23.1;q11].
Pierquin
G
G
Department of Human Genetics, University of Liege, Belgium.
Herens
C
C
Dodinval
P
P
Frederic
J
J
Weber
I
I
Senterre
J
J
Fryns
J P
JP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure*; D002898:Chromosomes, Human, Pair 8 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy