Article
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 Region.
Cytogenetic and genome research - 1 Jan 2020
Kirk Beth, Kharbanda Mira, Bateman Mark S, Hunt David, Taylor Emma-Jane, Collins Amanda L, Bunyan David J, Collinson Morag N, Russell Louisa M, Bowell Sarah, Barber John C K
Abstract excerpt
A phenotype is emerging for the proximal pair of G-dark bands in 11q (11q14.1 and q14.3) but not yet for the distal pair (11q22.1 and q22.3). A mother and daughter with the same directly transmitted 12.3-Mb interstitial deletion of 11q21q22.3 (GRCh37: 93,551,765-105,817,723) both had initial feeding difficulties and failure to thrive, speech delay, learning difficulties, and mild dysmorphism. Among 17 patients...
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