1 copy: 2q telomere|3 copies: 2q telomere

GRCh37/hg19 chr2: 242,930,600-243,102,476 (NC_000002.11)

• Haploinsufficiency score: Haploinsufficiency unlikely
• Strength of Evidence (disclaimer): Haploinsufficiency unlikely

Haploinsufficiency phenotype comments:

Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.

• Triplosensitivity score: Triplosensitivity unlikely
• Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

Macina et al (1994) characterized the sequence of the 2q telomere by cloning the terminal 240 kb in two overlapping yeast artificial-chromosomes (YACs). The 2q telomere contains a region of low copy subtelomeric repeats within the distal region 50 kb to the telomere, a segment of DNA duplicated on distal 8p23 100 kb from the telomere and a region of single copy DNA 230 kb from the 2q telomere. RecA-assisted restriction endonuclease (RARE) site-specific cleavage was utilized to show a potential 55 kb larger sized polymorphism in one of eleven individuals studied.