title: Trisomy (1q)(q42----qter): confirmation of a syndrome.
abstract: This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42----qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful. The clinical abnormalities reported here, most of which were included amongst others in the previous reports of trisomy (1q)(q42----qter), provide the basis for characterisation of this condition as a syndrome. These changes comprised macrocephaly, prominent forehead, micrognathia, large fontanelle, flat nasal bridge, low-set ears, facial capillary naevi, cardiac defect and small size for gestational age.
authors.affiliation: Cytogenetics Unit, Institute of Clinical Pathology and Medical Research, Westmead, New South Wales, Australia.
authors.forename: N L
authors.initials: NL
authors.lastname: Chia
authors.forename: L R
authors.initials: LR
authors.lastname: Bousfield
authors.forename: C C
authors.initials: CC
authors.lastname: Poon
authors.forename: B J
authors.initials: BJ
authors.lastname: Trudinger
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy