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Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromes
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Orientador(es)
Resumo(s)
Introduction: Microdeletions or contiguous gene syndromes are characterized by
variable complex clinical phenotypes caused by hemizygosity of contiguous genes, defined
mainly by a common deletion region, or of a major causal gene locus. Delineation of the
pathogenic genes within these CGS regions is a major challenge. Identification of breakpoints
at nucleotide resolution of balanced chromosomal rearrangements localized within these
regions constitutes a key strategy for definition of the phenotypically important genes. The aim
of this study is the identification of molecular alterations responsible for an extremely complex
clinical phenotype resembling 1q41q42 microdeletion syndrome (coarse facial features, severe
developmental delay, congenital heart disease and congenital microcephaly) presented by an
individual with the t(1;3)(q42.11;p25.3)dn.
Descrição
Palavras-chave
Microdeletions Contiguous Gene Syndromes Doenças Genómicas Doenças Genéticas