Cytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14

dc.contributorUniversidade Federal de São Paulo (UNIFESP)
dc.contributorChildrens Hosp Philadelphia
dc.contributorUniversidade de São Paulo (USP)
dc.creatorGuilherme, Roberta Santos [UNIFESP]
dc.creatorAyres Meloni, Vera de Freitas [UNIFESP]
dc.creatorSodre, Claudete Palmer [UNIFESP]
dc.creatorChristofolini, Denise Maria [UNIFESP]
dc.creatorPellegrino, Renata [UNIFESP]
dc.creatorMello, Claudia Berlim de [UNIFESP]
dc.creatorConlin, Laura Kathleen
dc.creatorHutchinson, Anne Lawlor
dc.creatorSpinner, Nancy Bettina
dc.creatorBrunoni, Decio [UNIFESP]
dc.creatorKulikowski, Leslie Domenici [UNIFESP]
dc.creatorMelaragno, Maria Isabel [UNIFESP]
dc.date.accessioned2016-01-24T14:05:37Z
dc.date.accessioned2022-10-07T21:04:53Z
dc.date.available2016-01-24T14:05:37Z
dc.date.available2022-10-07T21:04:53Z
dc.date.created2016-01-24T14:05:37Z
dc.date.issued2010-11-01
dc.identifierAmerican Journal of Medical Genetics Part A. Hoboken: Wiley-liss, v. 152A, n. 11, p. 2865-2869, 2010.
dc.identifier1552-4825
dc.identifierhttp://repositorio.unifesp.br/handle/11600/33020
dc.identifier10.1002/ajmg.a.33689
dc.identifierWOS:000284005700032
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4026662
dc.description.abstractWe present a 20-year follow-up on a patient with a ring chromosome 14. the ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. the patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture. (C) 2010 Wiley-Liss, Inc.
dc.languageeng
dc.publisherWiley-Blackwell
dc.relationAmerican Journal of Medical Genetics Part A
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.rightsAcesso restrito
dc.subjectinstability
dc.subjectfollow-up
dc.subjectring chromosome and SNP-array
dc.titleCytogenetic and Molecular Evaluation and 20-Year Follow-Up of a Patient With Ring Chromosome 14
dc.typeArtigo


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