© 2005 BMJ Publishing Group Ltd
LETTER TO JMG
Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: contiguous gene deletion or "deletion with positional effect" syndrome?
1 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
2 INSERM U393 and Département de Génétique, Hôpital Necker-Enfants Malades, rue de Sèvres, Paris, France
3 Center for Human Genetics, Duke University Medical Center, Durham, NC, USA
Correspondence to:
Correspondence to:
Dr R Redon
The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK; rr2@sanger.ac.uk
Revised version received 13 July 2004
Abbreviations: array-CGH, microarray based comparative genomic hybridisation; FISH, fluorescent in situ hybridisation; GTG, G-bands by trypsin using Giemsa; RHG, R-bands by heat using Giemsa; TAR, telomere associated repeat
Keywords: array-CGH; chromosome 1; diagnosis; monosomy 1p36 syndrome; position effect
| The first 150 words of the full text of this article appear below. |
Chromosomal anomalies account for a substantial proportion of syndromes associated with mental retardation. Some of these anomalies result in a specific phenotype which may direct the clinician towards the diagnosis.1,2 Deletion of the most distal band on the short arm of chromosome 1 (1p36) is the most common terminal deletion syndrome, affecting 1 out of 5000 newborns. It results in a clinically recognisable syndrome characterised by a specific facial gestalt including large anterior fontanel, deep-set eyes, flat nasal bridge, asymmetric ears, and pointed chin.3,4 Additional clinical features include learning disability, seizure, cardiomyopathy, and hearing impairment.
Detailed molecular characterisation of patients with 1p36 constitutional deletions showed variability in the parental origin, deletion size, and complexity of the chromosomal rearrangements, as well as in the clinical presentation of the syndrome.3 These observations led Wu et al to propose that "haploinsufficiency of contiguous, but functionally unrelated, genes in the deletion region are responsible
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