Article
Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation.
European journal of medical genetics - 1 Jan 2000
Gilling Mette, Lind-Thomsen Allan, Mang Yuan, Bak Mads, Møller Morten, Ullmann Reinhard, Kristoffersson Ulf, Kalscheuer Vera M, Henriksen Karen Friis, Bugge Merete, Tümer Zeynep, Tommerup Niels
Abstract excerpt
In a monozygotic twin couple with mental retardation (MR), we identified a maternally inherited inversion and a paternally inherited translocation: 46,XY,inv(10)(p11.2q21.2)mat,t(9;18)(p22;q21.1)pat. The maternally inherited inv(10) was a benign variant without any apparent phenotypical implications. The translocation breakpoint at 9p was within a cluster of interferon α genes and the 18q21 breakpoint truncated...
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