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

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• 作者：Ilá ; ria Cristina Sgardioli ; Milena Simioni ; Nilma Lú ; cia Viguetti-Campos ; Joana Rosa Prota ; Vera Lú ; cia Gil-da-Silva-Lopes ; ^{vlopes@fcm.unicamp.br}
• 关键词：rec ; recombinant ; dup ; duplication ; inv ; inversion ; mat ; maternal ; arr ; array ; GTG-banded ; Giemsa banded ; C-banding ; centromere banding ; SPATA7 ; spermatogenesis associated 7 ; GALC ; galactosylceramidase ; TTC8 ; tetratricopeptide repeat domain 8 ; FBLN5 ; fibu
• 刊名：Gene
• 出版年：2013
• 出版时间：10 July, 2013
• 年：2013
• 卷：523
• 期：2
• 页码：192-194
• 全文大小：330 K

文摘

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.