Abstract
Among previously reported cases of 14q terminal deletions, only 11 have dealt with pure terminal deletion of 14q (14q3–14qter) and the break points were mapped by fluorescent in situ hybridisation (FISH) or genotyping in only four of them. Thanks to a collaborative study on behalf of the ‘Association des Cytogeneticiens de langue Française’(ACLF), we report two patients with terminal deletion of the long arm of chromosome 14, del(14)(q32.2) and del(14)(q32.32), diagnosed by subtelomere screening. In the two cases, a thick nuchal skinfold was detected by early ultrasound with normal prenatal karyotype. Their postnatal phenotype included large forehead, narrow palpebral fissures, epicanthic folds, upturned tip of the nose, narrow mouth and thin upper lip, microretrognathia, prominent earlobes, hypotonia, delayed psychomotor development and hypoplastic corpus callosum. By physical mapping using FISH, the size of the deletions was measured for patients 1 and 2: 6.55±1.05 and 4.67±0.10 Mb, respectively. The paternal origin of the deleted chromosome 14 was established by genotyping of microsatellites for patient 1 and the phenotype of terminal del(14)(q32) was compared to maternal uniparental disomy 14.
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Acknowledgements
We are grateful to the patients and their families for their kind cooperation. We thank Dr M Rocchi for providing us with the 14q BAC clones from the Bari Resources for Molecular Cytogenetics. We thank S Knight who provided us the reference PAC GS-820M16. We thank Dr H Goldstein and Dr WV Bogomoletz for critical reading of the manuscript. This study was supported by the following grants:AOL 2001-2003 Reims CHU, Promotion: CHU-Bordeaux France, ACLF réseau télomère.
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Schneider, A., Benzacken, B., Guichet, A. et al. Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia. Eur J Hum Genet 16, 680–687 (2008). https://doi.org/10.1038/sj.ejhg.5201977
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DOI: https://doi.org/10.1038/sj.ejhg.5201977
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