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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

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Autor(es):
de Athayde Costa, Larissa Sampaio [1] ; Zandona-Teixeira, Aline C. [1, 2] ; Montenegro, Marilia M. [1, 2] ; Dias, Alexandre T. [2] ; Dutra, Roberta L. [1, 2] ; Honjo, Rachel S. [1] ; Bertola, Debora R. [1] ; Kulikowski, Leslie D. [1, 2] ; Kim, Chong A. [1]
Número total de Autores: 9
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Dept Pediat, Unidade Genet, Inst Crianca HCFMUSP, Sao Paulo - Brazil
[2] Univ Sao Paulo, Fac Med, Dept Patol, Lab Citogen, HCFMUSP, LIM 03, Sao Paulo - Brazil
Número total de Afiliações: 2
Tipo de documento: Artigo Científico
Fonte: MOLECULAR CYTOGENETICS; v. 8, JUN 26 2015.
Citações Web of Science: 3
Resumo

Background: Pallister-Killian syndrome (PKS) is a sporadic genetic disorder caused by the presence of a tissue-specific mosaicism for isochromosome 12p - i(12) (p10) and is characterized by facial dysmorphism including coarse facies, upslanting palpebral fissures, bitemporal alopecia, pigmentary skin anomalies, developmental delay, hypotonia and seizures. Although typical clinical features of PKS commonly exist, clinicians often do not raise the possibility of this diagnosis. Results: We reviewed the medical records of 10 patients with confirmed PKS followed in our service (since 1990 to 2015). Age at diagnosis varied from prenatal to 3 years and clinical features were consistent with those described in the literature. In all patients, peripheral blood karyotypes were normal and cytogenomic study was performed in order to confirm the diagnosis. Three of these patients had PKS diagnosis confirmed by buccal smear MLPA. Conclusion: An early conclusion from our results demonstrated that MLPA on buccal smears is a good and non-invasive method to detect extra copies of 12p and should be considered as the first exam, before a skin biopsy for a fibroblast karyotype is performed. (AU)

Processo FAPESP: 09/53105-9 - Aplicação da citogenética molecular no diagnóstico de pacientes com anomalias congênitas para a redução da mortalidade infantil
Beneficiário:Leslie Domenici Kulikowski
Linha de fomento: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS
Processo FAPESP: 11/16664-0 - Estudo genético-clínico e molecular em pacientes portadores de manchas cutâneas associadas ao retardo de desenvolvimento neuropsicomotor e/ou malformações
Beneficiário:Aline Cristina Zandoná Teixeira
Linha de fomento: Bolsas no Brasil - Mestrado