Browsing by Author "Morton, C."
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- Disruption of WDR26 by a translocation breakpoint confirms its causal role in Skraban-Deardorff and 1q41q42 microdeletion syndromesPublication . Freixo, J.P.; Marques, M.; Fino, J.; Carvalho, I.; Talkowski, M.E.; Morton, C.; David, D.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.
- KBG Syndrome: a de novo chromosomal rearrangement in prenatal diagnosis beyond conventional cytogeneticsPublication . Carvalho, I.; Freixo, J.P.; Cruz, J.; Oliveira, N.; Marques, B.; Correia, H.; Morton, C.; David, D.Introduction: KBG syndrome (OMIM #148050) is a rare disorder characterized by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal anomalies, short stature and developmental delay. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing loss, palatal defects, strabismus and congenital heart defects are less common findings. Although this is an autosomal dominant condition predominant maternal inheritance, mainly due to a milder clinical manifestation in females, is frequently observed. Pathogenic alterations, mainly truncating point mutations and microdeletions, leading to haploinsufficiency of ANKRD11, have been described to be the molecular basis of this syndrome.