Document Detail

Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly.
MedLine Citation:
PMID:  18792983     Owner:  NLM     Status:  MEDLINE    
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.
Sirpa Ala-Mello; Linda Siggberg; Sakari Knuutila; Harriet von Koskull; Mervi Taskinen; Maarit Peippo
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-11-13     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2490-4     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland.
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MeSH Terms
Bone Marrow Transplantation
Child, Preschool
Chromosome Breakage
Chromosome Deletion*
Chromosome Inversion*
Chromosomes, Human, Pair 21*
Chromosomes, Human, Pair 5*
Cytogenetic Analysis
Gene Dosage
Goldenhar Syndrome / genetics*
Molecular Diagnostic Techniques
Myelodysplastic Syndromes / diagnosis,  therapy
Thrombocytopenia / diagnosis
Translocation, Genetic*
Transplantation, Homologous
Treatment Outcome

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