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Published on: August 17, 2022
Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q)
P Prontera1, B Buldrini, V Aiello
1Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
Abstract:
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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