A Rare Case of Concomitant Deletions in 15q11.2 and 19p13.3

Autor(es)

Sgardioli, Ilaria C. ^[1] ; Lustosa-Mendes, Elaine ^[1] ; dos Santos, Ana P. ^[1] ; Vieira, Tarsis P. ^[1] ; Gil-da-Silva-Lopes, Vera L. ^[1]

Afiliação do(s) autor(es)

^[1] State Univ Campinas UNICAMP, Dept Med Genet, Fac Med Sci, Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Cytogenetic and Genome Research; v. 156, n. 2, p. 80-86, 2018.
• Citações Web of Science: 0

Resumo

A female individual with concomitant deletions in 15q11.2 and 19p13.3 is reported. She presents facial dysmorphisms, motor delay, learning difficulties, and mild behavioral im pairment. After chromosomal microarray analysis, the final karyotype was established as 46, XX. arr{[}GRCh37] 15q11.2 (22770421\_23282798) x 1,19p13.3(3793904\_4816330) x 1. The deletion in 15q11.2 is 507 kb in size involving 7 non-imprinted genes, 4 of which are registered in the OMIM database and are implicated in neuropsychiatric or neurodevelopmental disorders. The deletion in 19p13.3 is 1,022 kb in size and encompasses 47 genes, most of which do not have a well-known function. The genotype-phenotype correlation is discussed, and most of the features could be related to the 19p13.3 deletion, except for velopharyngeal insufficiency. Other genes encompassed in the deleted region, as well as unrecognized epistatic factors could also be involved. Nevertheless, the two-hit model related to the 15q11.2 deletion would be an important hypothesis to be considered. (C) 2018 S. Karger AG, Basel (AU)

• Processo FAPESP: 12/51799-6 - Consolidação de estratégia multicêntrica em genética para base de dados clínicos e investigação diagnóstica de fendas orofaciais
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Pesquisa em Políticas Públicas para o SUS