title: Three cases of partial trisomy 7q owing to rare structural rearrangements of chromosome 7.
abstract: 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.
authors.affiliation: Cytogenetics Laboratory, Wellington Public Hospital, New Zealand.
authors.forename: D R
authors.initials: DR
authors.lastname: Romain
authors.forename: H
authors.initials: H
authors.lastname: Cairney
authors.forename: D
authors.initials: D
authors.lastname: Stewart
authors.forename: L M
authors.initials: LM
authors.lastname: Columbano-Green
authors.forename: M
authors.initials: M
authors.lastname: Garry
authors.forename: M I
authors.initials: MI
authors.lastname: Parslow
authors.forename: R
authors.initials: R
authors.lastname: Parfitt
authors.forename: R H
authors.initials: RH
authors.lastname: Smythe
authors.forename: C J
authors.initials: CJ
authors.lastname: Chapman
mesh_terms: 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