Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly

• Published in: American journal of medical genetics. Part A 2008-10, Vol.146A (19), p.2490-2494
• Main Authors: Ala‐Mello, Sirpa, Siggberg, Linda, Knuutila, Sakari, von Koskull, Harriet, Taskinen, Mervi, Peippo, Maarit
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Bone Marrow Transplantation; Child, Preschool; Chromosome aberrations; Chromosome Breakage; Chromosome Deletion; Chromosome Inversion; Chromosomes, Human, Pair 21; Chromosomes, Human, Pair 5; Classical genetics, quantitative genetics, hybrids; Cri‐du‐Chat syndrome; Cytogenetic Analysis; deletion 5p15.3‐pter; Down syndrome; Female; Fundamental and applied biological sciences. Psychology; Gene Dosage; Genetics of eukaryotes. Biological and molecular evolution; Goldenhar Syndrome - genetics; Hematologic and hematopoietic diseases; Human; Humans; Karyotyping; lateral facial cleft; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Medical genetics; Medical sciences; Molecular Diagnostic Techniques; myelodysplasia; Myelodysplastic Syndromes - diagnosis; Myelodysplastic Syndromes - therapy; oculoauriculovertebral anomaly; RUNX1; TERT; Thrombocytopenia - diagnosis; Translocation, Genetic; Transplantation, Homologous; Treatment Outcome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.32479

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. © 2008 Wiley‐Liss, Inc.