Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review

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dc.contributor.authorYu, S.
dc.contributor.authorBaker, E.
dc.contributor.authorHinton, L.
dc.contributor.authorEyre, H.
dc.contributor.authorWaters, W.
dc.contributor.authorHiggins, S.
dc.contributor.authorSutherland, G.
dc.contributor.authorHaan, E.
dc.date.issued2005
dc.description.abstractFrequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review. Unbalanced subtelomere chromosome rearrangements are a significant cause of mental retardation with approximately 5% of over 3000 affected individuals tested worldwide having a chromosome rearrangement of this type. Many of these abnormalities are detectable using routine karyotyping at the 550 band level and therefore are not considered to be cryptic. The frequency of truly cryptic subtelomere abnormality should be less than 5% but has not been established. In this study, we defined 'cryptic abnormality' as one not detectable at the 550 band level on routine karyotyping. Using this as one of the selection criteria, we have studied 534 individuals with mental retardation/ developmental delay (MR/DD) and referred for subtelomere study by clinical geneticists. We have identified seven cases with cryptic subtelomere abnormalities. The clinical features of the seven abnormal cases are summarized. Literature review identified five publications on the identification of subtelomere abnormalities which used similar recruitment criteria: (a) normal karyotype at the 550 band level and (b) subjects were selected for subtelomere studies. Combining the data from these studies with those of the current study, 1154 patients were tested and 30 subtelomere abnormalities were identified. We estimate the frequency of truly cryptic subtelomere abnormality to be approximately 2.6% (30/1154) in children with MR/DD who are referred for subtelomere study.
dc.identifier.citationClinical Genetics, 2005; 68(5):436-441
dc.identifier.doi10.1111/j.1399-0004.2005.00513.x
dc.identifier.issn0009-9163
dc.identifier.issn1399-0004
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.urihttp://hdl.handle.net/2440/17382
dc.language.isoen
dc.publisherBlackwell Munksgaard
dc.source.urihttps://doi.org/10.1111/j.1399-0004.2005.00513.x
dc.subjectCentromere
dc.subjectTelomere
dc.subjectHumans
dc.subjectAbnormalities, Multiple
dc.subjectChromosome Aberrations
dc.subjectIn Situ Hybridization, Fluorescence
dc.subjectKaryotyping
dc.subjectDevelopmental Disabilities
dc.subjectGene Frequency
dc.subjectAdolescent
dc.subjectAged
dc.subjectInfant
dc.subjectFemale
dc.subjectMale
dc.subjectIntellectual Disability
dc.titleFrequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review
dc.typeJournal article
pubs.publication-statusPublished

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