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

作者：Sgardioli Ilaria Cristina; Simioni Milena; Viguetti Campos Nilma Lucia; Prota Joana Rosa; Gil da Silva Lopes Vera Lucia^*

来源：Gene, 2013, 523(2): 192-194.

DOI：10.1016/j.gene.2013.03.115

• Pericentric inversion
• Recombinant chromosome
• Partial distal 14q trisomy
• Congenital defects

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.

• 出版日期2013-7-10