title: Monosomy of 1p13.3-22.3 in twins.
abstract: Twin girls with deletion 1p13.3----22.3 are reported. They are characterised by psychomotor retardation, short stature, narrowing of the external auditory meati and abnormalities of the digits. A high resolution analysis revealed the karyotype to be: 46,XX,-1,-4,-9,-18, +der(1)t(1:9) (p22.3;q13)inv(1)(p13.2:q25) del (1)(p13.3----22.3)t(4:18)(4qter----4q32::18q22----1 8qter; 18qter----18q22::4q32----4qter). A phenotype-karyotype correlation study of this case and three others did not support the delineation of a distinct syndrome.
authors.affiliation: Department of Pathology, Nelson Hospital, New Zealand.
authors.forename: H
authors.initials: H
authors.lastname: Dockery
authors.forename: J
authors.initials: J
authors.lastname: Van der Westhuyzen
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D005260:Female; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D009006:Monosomy; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics; D014427:Twins / Q000235:genetics*