Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.
Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.
Romain
D R
DR
Cytogenetics Laboratory, Wellington Public Hospital, New Zealand.
Cairney
H
H
Stewart
D
D
Columbano-Green
L M
LM
Garry
M
M
Parslow
M I
MI
Parfitt
R
R
Smythe
R H
RH
Chapman
C J
CJ
D000328:Adult; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014314:Trisomy