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 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.
Prontera
P
P
Medical Genetics Unit, University of Perugia, Perugia, Italy. pprontera@hotmail.com
Buldrini
B
B
Aiello
V
V
Rogaia
D
D
Mencarelli
A
A
Gruppioni
R
R
Bonfatti
A
A
Beltrami
N
N
Donti
E
E
Sensi
A
A
D000293:Adolescent; D002675:Child, Preschool; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D004392:Dwarfism / Q000235:genetics; D005147:Facial Bones / Q000002:abnormalities; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D011995:Recombination, Genetic