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We have examined the phenotypic effects of 21 independent deletions from the fully sequenced and annotated 356 kb telomeric region of the short arm of chromosome 16 (16p13.3). Fifteen genes contained within this region have been highly conserved throughout evolution and encode proteins involved in important housekeeping functions, synthesis of haemoglobin, signalling pathways and critical developmental pathways. Although a priori many of these genes would be considered candidates for critical haploinsufficient genes, none of the deletions within the 356 kb interval cause any discernible phenotype other than alpha thalassaemia whether inherited via the maternal or paternal line. These findings contrast with previous observations on patients with larger (> 1 Mb) deletions from the 16p telomere and therefore address the mechanisms by which monosomy gives rise to human genetic disease.

Original publication




Journal article


Eur J Hum Genet

Publication Date





217 - 225


Adolescent, Adult, Base Sequence, Child, Child, Preschool, Chromosomes, Human, Pair 16, Female, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Molecular Sequence Data, Monosomy, Phenotype, Sequence Deletion, Sequence Homology, Nucleic Acid, Telomere