A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion

Autor(es)

Sgardioli, Ilaria Cristina ^[1] ; Simioni, Milena ^[1] ; Viguetti-Campos, Nilma Lucia ^[1] ; Prota, Joana Rosa ^[1] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Afiliação do(s) autor(es)

^[1] Univ Estadual Campinas, Dept Med Genet, UNICAMP, Fac Med Sci, BR-13083887 Campinas, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Gene; v. 523, n. 2, p. 192-194, JUL 10 2013.
• Citações Web of Science: 4

Resumo

Chromosome 14 is often involved in chromosome rearrangements, although pericentric inversions are rare. Here we report a mother carrying a pericentric inversion of chromosome 14, and her daughter with recombinant chromosome characterized by a partial distal 14q trisomy. Principal clinical findings of the child include facial anomalies, microcephaly, developmental delay, hypotonia and cardiac malformation. Her final karyotype was 46,XX,rec(14)dup(14q)inv(14)(p12q31)mat{[}20], arr 14q31.3qter(85,427,839-106,356,482) x3. This report brings new data about clinical features of partial 14q trisomy and molecular analysis enables the visualization of genes involved in the segment duplicated. (C) 2013 Elsevier B.V. All rights reserved. (AU)

• Processo FAPESP: 08/10596-0 - Uso da técnica de SNP array para detecção de variações no número de cópias do DNA (copy number variation, CNV) em defeitos congênitos de herança complexa: as fendas orais como modelo
• Beneficiário: Vera Lúcia Gil da Silva Lopes
• Modalidade de apoio: Auxílio à Pesquisa - Regular