Goldenhar Research

Chromosomal Rearrangements.

The oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that’s been described in several chromosomal rearrangements.

In seven patients that were preceding a deletion of the terminal 5p has recurred One of them. We wish to report on an extra individual in order to reinforce the significance of this genomic region in a subgroup of OAV cases’ cause. Especially in the OAV patients with a facial cleft that is lateral, studies, might establish one background of this disorder.

Along with OAV she developed myelodysplasia treated with bone marrow transplantation. We review a terminal deletion of 5p along with the patients with OAV and discuss her clinical findings with reference.


November/12/2008

Further evidence for a relationship between the chromosome region along with the anomaly that is oculoauriculovertebral.