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https://hdl.handle.net/2440/28128
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Type: | Journal article |
Title: | A familial cryptic subtelomeric deletion 12p with variable phenotypic effect |
Author: | Baker, E. Hinton, L. Callen, D. Haan, E. Dobbie, A. Sutherland, G. |
Citation: | Clinical Genetics: an international journal of genetics and molecular medicine, 2002; 61(3):198-201 |
Publisher: | Munksgaard Int Publ Ltd |
Issue Date: | 2002 |
ISSN: | 0009-9163 1399-0004 |
Statement of Responsibility: | E Baker, L Hinton, DF Callen, EA Haan, A Dobbie and GR Sutherland |
Abstract: | A 15-year-old-boy and his mother, both carrying a cryptic deletion within 12p13.33, are described. The proband has a mild phenotype with moderate mental retardation and severe behavioural problems. The mother had some learning difficulties at school. Conventional GTL-banded high-resolution chromosome analysis showed normal karyotypes. Subsequent analysis by fluorescence in situ hybridization using a set of probes specific for the subtelomeric regions of all chromosomes, plus a series of probes at 12p13.33 extending from the 12p telomere, showed that both mother and son carry a 1.65 Mb terminal deletion in this region. There are 10 predicted genes within the deleted region. The unanticipated familial nature of the deletion emphasizes the value of family studies in all cases with subtelomeric abnormalities. It also demonstrates the difficulty in making a clinical diagnosis of individuals with this deletion. To the best of the present authors' knowledge, the proband and his mother are the first patients described with a submicroscopic deletion at 12p13.33. |
Keywords: | chromosome 12p fluorescence in situ hybridization mental retardation subtelomeric deletion |
Description: | The definitive version is available at www.blackwell-synergy.com |
DOI: | 10.1034/j.1399-0004.2002.610305.x |
Published version: | http://dx.doi.org/10.1034/j.1399-0004.2002.610305.x |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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