Partial trisomy 17q and a generalised bone dysplasia in a 12 week fetus.
A fetus, which was spontaneously aborted at 12 weeks' gestation, was found to have a generalised bone dysplasia and an unbalanced karyotype with trisomy for 17q23.1----qter due to a maternal translocation: 46,XX,t(5;17)(p15.3;q23.1)mat.
Robb
A
A
Department of Pathology, Raigmore Hospital, Inverness.
Forsyth
L
L
Tolmie
J
J
D000022:Abortion, Spontaneous / Q000235:genetics; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D002895:Chromosomes, Human, Pair 5; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy