Monosomy 1p36 (1p36 deletion syndrome) is one of the most common terminal deletion syndromes, occurring in an estimated 1 in 10,000 births1.
It is characterised by developmental delay, growth abnormalities and craniofacial dysmorphism. Minor cardiac malformations, sensorineural hearing loss and opthalmological anomalies have also been observed2. Deletions are extremely variable and range from 1.5 to 10.5Mb3.
The SKI gene, located at 1p36.33, was deleted in all individuals tested with 1p36 deletion syndrome4. This gene is involved in neural tube development and muscle differentiation5 and deletions in mice produce phenotypes with some similarities to those seen in individuals with 1p36 deletion syndrome6.
1. Shaffer, Lupski et al., Annu Rev Genet 2000;34:297-329
2. Slavotinek A et al., J Med Genet 1999;36:657-663
3. Heilstedt HA et al., Am J Hum Genet 2003;72:1200-12
4. Colmenares C, Nat Genet 2002;30:106-9
5. Kaufman CD et al., Mech Dev 2000;95:147-62
6. Berk M et al., Genes Dev 1997;11:2029-39
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