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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

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Autor(es):
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Gasparini, Yanca [1] ; Montenegro, Marilia M. [1] ; Novo-Filho, Gil M. [1] ; Ceroni, Jose R. M. [2] ; Honjo, Rachel S. [2] ; Zanardo, Evelin A. [1] ; Dias, Alexandre T. [1] ; Nascimento, Amom M. [1] ; Costa, Thais V. M. M. [1] ; Madia, Fabricia A. [1] ; Chehimi, Samar N. [1] ; Damasceno, Jullian G. [1] ; Kim, Chong A. [2] ; Kulikowski, Leslie D. [1]
Número total de Autores: 14
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Hosp Clin HCFMUSP, Inst Crianca, Lab Citogen, Dept Patol, Fac Med, Sao Paulo - Brazil
[2] Univ Sao Paulo, Hosp Clin HCFMUSP, Inst Crianca, Unidade Genet, Dept Pediat, Fac Med, Sao Paulo - Brazil
Número total de Afiliações: 2
Tipo de documento: Artigo Científico
Fonte: Cytogenetic and Genome Research; v. 157, n. 3, p. 153-157, 2019.
Citações Web of Science: 1
Resumo

Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected over-growth at birth. Cytogenetic analysis of her peripheral blood showed normal results, suggesting the presence of a chromosomal alteration in other tissues. Further studies using G-banding and FISH performed on fibroblasts from both hyper-and hypopigmented regions identified a 47, XX,+12/46, XX karyo-type. To the best of our knowledge, no patients with mosaic trisomy 12 associated with overgrowth have been reported to date. Congenital overgrowth and neonatal overgrowth have been frequently linked to Pallister-Killian syndrome (PKS; OMIM 601803). This case suggests the possibility of an association of genes present in the 12p region with fetal overgrowth, considering that chromosomal duplications could lead to an increase in the production of aberrant transcripts and disturbing gene dosage effects. This case highlights the importance of cytogenetic analysis in different tissues to provide relevant information to the specific genotype/phenotype correlation. (c) 2019 S. Karger AG, Basel. (AU)

Processo FAPESP: 16/09452-0 - Mapeamento dos pontos de quebra do DNA e investigação dos mecanismos associados a rearranjos genômicos utilizando sequenciamento de nova geração
Beneficiário:Leslie Domenici Kulikowski
Linha de fomento: Auxílio à Pesquisa - Regular
Processo FAPESP: 16/19360-5 - Estudo cromossômico e subtelomérico pela técnica de bandamento G e MLPA em manchas cutâneas pigmentares em pacientes com síndromes malformativas
Beneficiário:Yanca Gasparini de Oliveira
Linha de fomento: Bolsas no Brasil - Iniciação Científica