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We have previously described a series of patients in whom the deletion of 1-2 megabases (Mb) of DNA from the tip of the short arm of chromosome 16 (band 16p13.3) is associated with alpha-thalassemia/mental retardation syndrome (ATR-16). We now show that one of these patients has a de novo truncation of the terminal 2 Mb of chromosome 16p and that telomeric sequence (TTAGGG)n has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation (alpha alpha)TI do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3-4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with "pure" monosomy for the tip of chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome.


Journal article


Am J Hum Genet

Publication Date





668 - 676


Adult, Base Sequence, Blotting, Southern, Chromosome Deletion, Chromosomes, Human, Pair 16, DNA, DNA Mutational Analysis, DNA Nucleotidylexotransferase, DNA Repair, Electrophoresis, Gel, Pulsed-Field, Fathers, Globins, Humans, Intellectual Disability, Male, Molecular Sequence Data, Polymerase Chain Reaction, Restriction Mapping, Syndrome, Telomere, alpha-Thalassemia