A balanced whole arm reciprocal translocation resulting in three different adverse pregnancy outcomes.
A family with a whole arm translocation t(13;18)(13p18p;13q18q) was ascertained through a stillbirth with clinical features suggestive of trisomy 18. Two subsequent pregnancies both spontaneously aborted; one was found to have a 69,XXX,t(13;18)mat chromosome constitution while the other had a 45,XY,-13,-18, + der(18)t(13;18)mat chromosome constitution.
Cooper
P J
PJ
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Odstock, UK.
Towe
C
C
Crolla
J A
JA
D000015:Abnormalities, Multiple / Q000235:genetics; D000022:Abortion, Spontaneous / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D015342:DNA Probes; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D005317:Fetal Growth Retardation / Q000235:genetics; D005532:Foot Deformities, Congenital / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic; D014314:Trisomy
D015342:DNA Probes