Article
Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin.
American journal of medical genetics - 19 Nov 1999
Lacbawan F L, White B J, Anguiano A, Rigdon D T, Ball K D, Bromage G B, Yang X, DiFazio M P, Levin S W
Abstract excerpt
An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without significant reproductive consequences. However, our findings led us to consider a previously proposed mechanism of...
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