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Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q). 2010
P Prontera, and
B Buldrini, and
V Aiello, and
D Rogaia, and
A Mencarelli, and
R Gruppioni, and
A Bonfatti, and
N Beltrami, and
E Donti, and
A Sensi
Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a three-generation family. A mother/son couple, carrying the rec dup(18q), showed dysmorphisms and short stature but only the son had mild mental retardation and speech delay. Karyotype, FISH analysis with subtelomeric probes and a 0.8 Mb array-CGH investigations were used to analyze this recombinant, demonstrating no genomic differences between the two relatives. This is the first observation of familial transmission of a rec dup(18q), showing that this recombinant is associated with a mild phenotype with variable clinical picture.
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