Familial distal trisomy 8(q24.13----qter).
Trisomy for the distal part of the long arm of chromosome 8(q24.13----qter) is described in three sibs. The anomaly arose as an adjacent 1 meiotic segregation from a balanced reciprocal translocation t(1;8)(q44; q24.13)mat.
Romain
D R
DR
Department of Laboratory Services, Wellington Hospital, New Zealand.
Bloxham
R A
RA
Columbano-Green
L M
LM
Chapman
C J
CJ
Parfitt
R G
RG
Smythe
R H
RH
Cairney
H
H
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002898:Chromosomes, Human, Pair 8; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics; D008297:Male; D010375:Pedigree; D014034:Toes / Q000002:abnormalities; D014314:Trisomy