Article
Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16.
Clinical genetics - 1 Mar 1993
Roland B, Lowry R B, Cox D M, Ferreira P, Lin C C
Abstract excerpt
A familial complex chromosomal rearrangement (CCR) was ascertained through a mentally retarded, dysmorphic individual. Carriers of the CCR have the karyotype 46,XX or XY, t(6;15)(q16;q21), ins(3;6)(q12;q14q16), and malsegregation of the CCR resulted in loss of the segment 6q14 to 6q16 in the proband, and in an additional copy of the same segment in three members of the extended family. The proband has features...
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