Clinical, cytogenetic, and molecular characterization of six patients with ring chromosomes 22, including one with concomitant 22q11.2 deletion

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art_GUILHERME_Clinical_cytogenetic_and_molecular_characterization_of_six_patients_2014.PDF (2.09 MB)
Citações na Scopus
17
Tipo de produção
article
Data de publicação
2014
Editora
WILEY-BLACKWELL
DOI
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Scopus
Web of Science
PubMed
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Título do Volume
Autores
GUILHERME, Roberta Santos
SOARES, Karina Cunha
SIMIONI, Milena
VIEIRA, Tarsis Paiva
GIL-DA-SILVA-LOPES, Vera Lucia
BRUNONI, Decio
SPINNER, Nancy Bettina
CONLIN, Laura Kathleen
CHRISTOFOLINI, Denise Maria
Autor de Grupo de pesquisa
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Organizadores
Citação
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, v.164, n.7, p.1659-1665, 2014
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
We report here on six patients with a ring chromosome 22 and the range of cytogenetic and phenotypic features presented by them. Genomic analysis was carried out using classical and molecular cytogenetics, MLPA (Multiplex Ligation-dependent Probe Amplification) and genome-wide SNP-array analysis. The ring was found in all patients, but Patient 6 displayed constitutional mosaicism with a normal cell line. Five patients had deletions in the ring chromosome 22, and in four of them the breakpointsunique for each patientcould be identified by genome-wide SNP-array analysis. One patient presented with a 22q11.2 deletion concomitant with the deletion caused by the ring formation. Common phenotypic features included autism, speech delay and seizures, as previously reported for individuals with r(22) and/or 22q13.3 deletions. Investigation of the genes within the deletions revealed multiple genes related to development of the central nervous system, psychomotor delay, severe language impairment, hypotonia, and autistic symptoms. There was no clear correlation between the severity of clinical features and the size of the deleted segment. This study underscores the variability in ring structure and clinical presentation of the r(22) and adds information to the limited literature on this rare disorder. (c) 2014 Wiley Periodicals, Inc.
Palavras-chave
ring chromosome 22, 22q11, 2 deletion, 22q13 deletion, speech delay and SNP array
URI
https://observatorio.fm.usp.br/handle/OPI/7625
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Coleções
Artigos e Materiais de Revistas Científicas - FM/MPE
Artigos e Materiais de Revistas Científicas - HC/ICr
Artigos e Materiais de Revistas Científicas - LIM/03
Artigos e Materiais de Revistas Científicas - LIM/36