Recombinant Chromosome 4 from a Familial Pericentric Inversion : Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

الملخص EN

Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p.

We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication.

This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion.

We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.