[PDF] Top 20 Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size

... the discordant pheno- type in the monozygotic twins is the somatic mosaicism [29,30], particularly in the first twin with milder pheno- ...the monozygotic twins represents an extreme ... See full document

... reported that none of the patients with isolated TF had del22q11. We found also in this study that TF patients with del22q11 always presented some extra- cardiac anomalies, including most frequently with subtle facial ... See full document

... the twins included a slightly more severe cognitive impairment and more coarse facial features with strabis- mus and horizontal nystagmus in Twin ...17q21.31 microdeletion was of the same size in ... See full document

... the discordant MZ pairs, we detected a mater- nally inherited ...at chromosome 6q encompassing this region have been im- plicated in NDD associated phenotypes (Kaminsky et ...similar size overlap- ... See full document

... Background: Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region ...3, 2 and ...3 deletion sizes and the presence ... See full document

... Campbell, Stevens and Morris (2002) attributed a negative correlation of FSIQ with age to PIQ, with no such decline evident in healthy sibling controls. Green et al. (2009) found that FSIQ, VIQ and PIQ were all ... See full document

... MZ twins, 773 dizygotic twins, and 329 siblings from a population-based twin reg- istry across the United Kingdom (including samples used for this study) reported that dominance genetic influence accounted ... See full document

... Replication sample 3: Netherlands Twin Register (NTR). The Netherlands Twin Register was established in 1987 and the NTR survey studies and the NTR BioBank project are described elsewhere (Boomsma et al., 2002, 2006; ... See full document

... a chromosome abnormal- ity identified by standard karyotyping. Deletion 22q13 has been shown to be one of the common chromosome defects associated with autism ...22q13 deletion syndrome was ... See full document

... FOXP3 is critically important for regulating the im- mune system and can suppress NFAT function, thereby inhibiting NFAT complex formation with AP-1 and in- flammatory pathway activation. NFAT is bound in its promoter ... See full document

... ‘The Twins’. The identi- cal twins in questions, John and Michael, were 26-year-old autistic ...the twins’ injurious communication with one another, a decision that cost them their remarkable mental ... See full document

... sample size, we were not able to consider more complex analytic models to control for potential con- founders, nor could we explore twins discordant for AN by sub-type (restricting ... See full document

... male monozygotic twins with strabismus also presented the same clinical ...in monozygotic twins with unaffected parents and dizygotic sibling manifesting similar genetic pattern, reinforcing ... See full document

... prominence, 2) white matter hyperintensities and a 12-mm pineal cyst, 3) multiple white matter hyperintensities and a nonspecific hypointensity in the left thalamus, 4) CSP and ab- sent left ICA flow, and 5) ... See full document

... recurrent microdeletion have also been described, either with a BAC or low resolution oligonucleotide microarray platform [12, 13, 17, ...Mb deletion in our proband, the previously reported smaller ... See full document

... baseline to Year 6, and with the exception of two partici- pants, all other participants with longitudinal samples paired with self when grouped by unsupervised hierarch- ical clustering. When a large number of random ... See full document

... these twins, a potential limitation given that whether or not MZ twins share a placenta may influence epigenomic and transcriptional differences mediated by subtle differences in the prenatal environment ... See full document

... MZ twins discordant for ASD and autism-related traits using a genome-wide ...all discordant twin pairs for each diagnostic category and others specific to one or two twin pairs, or one or two ... See full document

... of monozygotic twins having the same genomic ...of monozygotic twins dis- cordant for bipolar disorder, we isolated ten DNA fragments derived from CpG islands or putative promoters ...between ... See full document

... shown discordant twin phe- notypes to result from dominant de novo mutations af- fecting coding regions, as described for Van der Woude syndrome (Kondo et ...MZ twins discordant for several disorders ... See full document