FAMILIAL PERICENTRIC INVERSION OF CHROMOSOME 18: INTRAFAMILIAL VARIABILITY OF THE RECOMBINANT DUP(18q)

Summary: Familial pericentric inversion of chromosome 18: intrafamilial variability of the recombinant dup(18q): A pericentric inversion of chromosome 18 [inv(18)(p11.32q22)] and its recombinants has been studied in a threegeneration 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. Key-words: Inversion - Chromosome 8 - Recombinant - Familial - Array-CGH.

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