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Home > D. General pathology > Genetic and developmental anomalies > Chromosomal diseases > Constitutional inversions > 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).


- 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