Monsomy 1p36 LPU020 - Detail

Monosomy 1p36 is the most common terminal deletion syndrome involving 1 in 10,000 births¹. It is characterised by developmental delay, growth abnormalities and craniofacial dysmorphism. Minor cardiac malformation and sensorineural hearing loss and variable opthalomological anomalies have also been observed². Deletions range from 1.5 to 10.5 Mb³. SKI, located at distal 1p36, was deleted in all of the individuals tested who had the syndrome⁴. The gene is involved in neural tube development and muscle differentiation⁵ and deletions in mice have shown phenotypes that resemble the some of the features observed in individual with 1p36 deletion syndrome⁶.

Reference:/Bibliographie/Literatur/Bibliografia

1. Shaffer and Lupski., et al (2000) Annu Rev Genet 34: 297-329
2. Slavotinek A., et al (1999) J Med Genet 36: 567-663
3. Heilstedt H.A., et al (2003) Am J Hum Genet 72: 1200-1212
4. Colmenares C., (2002) Nat Genet 30: 106-109
5. Kaufman C.D., et al (2000) Mech Dev 95: 147-162
6. Berk M., et al (1997) Genes Dev 11: 2029-2039