title: Duplication of region 2q31 leads to 2qter in a family with 2/9 translocation.
abstract: A balanced carrier mother with a t(2;9) (q31;p24) had a son with partial duplication of the long arm of chromosome 2(q31 leads to qter). A comparison of this child with other cases from the literature suggests that hypertelorism, a short nose, a broad nasal bridge, low-set ears, micrognathia, clinodactyly, a short neck and muscular hypotonia are characteristic phenotypic features of individuals having a duplication of 2q31 leads to qter.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic