A recognizable phenotype related to 19p13.12 microdeletion

Autor(es)

de Souza, Laiara Cristina ^[1] ; Sgardioli, Ilaria Cristina ^[1] ; Gil-da-Silva-Lopes, Vera Lucia ^[1] ; Vieira, Tarsis Paiva ^[1]

Afiliação do(s) autor(es)

^[1] State Univ Campinas UNICAMP, Dept Med Genet, Fac Med Sci, Tessalia Vieira de Camargo St 126, BR-13083887 Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 176, n. 8, p. 1753-1759, AUG 2018.
• Citações Web of Science: 1

Resumo

Submicroscopic deletions in chromosome 19 have been rarely reported. We reported a male patient presenting with neurodevelopmental delay and facial dysmorphisms with a de novo 19p13.11p13.12 deletion of approximately 1.4 Mb. To date, there are seven cases with deletions overlapping the 19p13.11-p13.12 region described in the literature. A region of 800 kb for branchial arch defects in the proximal region of 19p13.12, and another minimal critical region of 305 kb for hypertrichosis, synophrys, and protruding front teeth have been proposed previously. We suggest that the shortest region of overlap could be refined to an approximately 53 kb region shared within all patients, encompassing part of BRD4 and AKAP8L genes and the AKAP8 gene. Based on the genotype-phenotype correlation of the present case and cases with overlapping deletions described in the literature, it was possible to recognize a consistent phenotype characterized by microcephaly, ear abnormalities, rounded face, synophrys, arched or upwardly angulated eyebrows, short nose, anteverted nares, prominent cheeks, teeth abnormalities, and developmental delay. (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