Home > D. Systemic pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional inversions > inv(2)(p11.2q13)
inv(2)(p11.2q13)
Friday 12 October 2007
Human chromosome 2 contains large blocks of segmental duplications (SDs), both within and between proximal 2p and proximal 2q, and these may contribute to the frequency of the common variant inversion inv(2)(p11.2q13).
References
Fickelscher I, Liehr T, Watts K, Bryant V, Barber JC, Heidemann S, Siebert R, Hertz JM, Tumer Z, Simon Thomas N. The variant inv(2)(p11.2q13) is a genuinely recurrent rearrangement but displays some breakpoint heterogeneity. Am J Hum Genet. 2007 Oct;81(4):847-56. PMID: 17847011