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

Author(s)

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

Affiliation

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

• Document type: Journal article
• Source: Gene; v. 523, n. 2, p. 192-194, JUL 10 2013.
• Web of Science Citations: 4

Abstract

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)

• FAPESP's process: 08/10596-0 - Investigation of copy number variation by SNP array in congenital defects with complex inheritance: the model of cleft lip and palate
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Regular Research Grants