title: Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.
abstract: The oculoauriculovertebral anomaly (OAV) or Goldenhar syndrome is a malformation complex that has been described in several chromosomal rearrangements. Among them a deletion of the terminal 5p has recurred in seven previous patients. We wish to report on an additional such patient in order to reinforce the significance of this genomic region in the cause of at least a subgroup of OAV cases. Future studies, particularly in the OAV patients with a lateral facial cleft, might define one genetic background of the disorder. Our patient had a complex translocation chromosome 45,XX, inv(2) (q32q37)mat, dic(5;21) (p15.3;q22.3)dn, resulting in a terminal 5p deletion, a terminal deletion of 21q demonstrated by FISH studies, and a duplication of 21q22.11-q22.12 documented by molecular karyotyping. In addition to OAV she developed myelodysplasia treated with bone marrow transplantation. We discuss her clinical findings with reference to her karyotype findings and review the patients with OAV and a terminal deletion of 5p.
authors.affiliation: Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland. sirpa.ala-mello@hus.fi
authors.forename: Sirpa
authors.initials: S
authors.lastname: Ala-Mello
authors.forename: Linda
authors.initials: L
authors.lastname: Siggberg
authors.forename: Sakari
authors.initials: S
authors.lastname: Knuutila
authors.forename: Harriet
authors.initials: H
authors.lastname: von Koskull
authors.forename: Mervi
authors.initials: M
authors.lastname: Taskinen
authors.forename: Maarit
authors.initials: M
authors.lastname: Peippo
mesh_terms: D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D019457:Chromosome Breakage; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D020732:Cytogenetic Analysis; D005260:Female; D018628:Gene Dosage; D006053:Goldenhar Syndrome / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D025202:Molecular Diagnostic Techniques; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000628:therapy; D013921:Thrombocytopenia / Q000175:diagnosis; D014178:Translocation, Genetic; D014184:Transplantation, Homologous; D016896:Treatment Outcome