Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

A Laleye, M J Alao, M Adjagba, C Hans, D Delneste, D K Gnamey, B Ayivi, R B Darboux

Unité de Biologie Humaine, Faculté des Sciences de la Sante, Cotonou, Bénin. cytogen@intnet.bj

Genetic counseling (Geneva, Switzerland) 2006

filter terms:

Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.

Citation

A Laleye, M J Alao, M Adjagba, C Hans, D Delneste, D K Gnamey, B Ayivi, R B Darboux. Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings. Genetic counseling (Geneva, Switzerland). 2006;17(1):35-40