Duplication of the distal segment of 14q.
We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum alpha-1 antitrypsin levels and PI typing did not help to localize the alpha-1 antitrypsin gene locus.
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005796:Genes; D006801:Humans; D007223:Infant; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype; D014178:Translocation, Genetic; D000515:alpha 1-Antitrypsin / Q000235:genetics
D000515:alpha 1-Antitrypsin