18 research outputs found
Prader–Willi syndrome and Tay–Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq
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Response to letter: “No evidence of paternal transmission of fragile X syndrome” by Doris and Peter Steinbach
No full textBoy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature
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A private view of heterozygosity: Eight‐year follow‐up study on carriers of the Tay‐Sachs gene detected by high school screening in montreal
No full textRefinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
No full textItem does not contain fulltextPURPOSE: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is believed to be a critical gene responsible for intellectual disability, so far no unequivocal data have confirmed this hypothesis. METHODS: In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. In addition, myt1l spatiotemporal expression in zebrafish embryos was analyzed by quantitative polymerase chain reaction and whole-mount in situ hybridization. RESULTS: Complete MYT1L deletion, intragenic deletion, or duplication was observed in all sporadic patients, in addition to two patients with a de novo point mutation in MYT1L. The familial cases comprise a 6-Mb deletion in a father and his three children and a 5' MYT1L overlapping duplication in a father and his two children. Expression analysis in zebrafish embryos shows specific myt1l expression in the developing brain. CONCLUSION: Our data strongly strengthen the hypothesis that MYT1L is the causal gene for the observed syndromal intellectual disability. Moreover, because 17 patients present with obesity/overweight, haploinsufficiency of MYT1L might predispose to weight problems with childhood onset.Genet Med 17 6, 460-466
Microdeletion in distal 17p13.1:a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability
No full textArray comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. This report describes two unrelated patients with a characteristic phenotype associated with overlapping de novo deletions in the distal region of 17p13.1 detected with array comparative genomic hybridization and confirmed by real-time PCR. These patients share remarkably similar clinical features including microcephaly, mild developmental delay, generalized joint laxity, and a body posture with knee and elbow flexion and hands held in midline. They have distinctive facial features which include long midface with retrognathia with overbite, and protruding ears. The deletions in both patients are the smallest ever reported in this region (approximately 252 and 219 kb). The overlapping region contains 18 genes. Various isolated deletions of the 17p13.1 region have been reported previously without delineation of a consistent phenotype. We propose that the described microdeletions in the distal portion of 17p13.1 represent a novel microdeletion syndrome
Ovarian Failure Related to Eukaryotic Initiation Factor 2B Mutations
No full textOvarian failure (OF) at age <40 years occurs in ∼1% of all women. Other than karyotype abnormalities, very few genes are known to be associated with this ovarian dysfunction. We studied eight patients who presented with premature OF and white-matter abnormalities on magnetic resonance imaging. Neurological signs may be absent or present after OF. In seven patients, we report for the first time mutations in three of the five EIF2B genes (EIF2B2, -4, and -5) that were recently shown to cause childhood ataxia with central nervous system hypomyelination/vanishing white-matter disease leukodystrophy. The correlation we observed between the age at onset of the neurological deterioration and the severity of OF suggests a common pathophysiological pathway
Literature Review of Frameworks for Macro-indicators
No full textThere has been an explosion of interest in recent years in Canada and other countries in macro-indicators and composite indexes of economic and social well-being. This reflects growing recognition of the important role macro-indicators can play as a tool for evaluating trends in and levels of economic and social development and for assessing the impact of policy on well-being. This report provides a literature review of conceptual/operational frameworks for the development of macro-indicators that give an assessment of economic, labour market and social conditions or states of well-being. The report provides an analysis of frameworks for macro-indicators by discussing general framework issues; identifies and describes six specific frameworks for macro-indicators which the author regards as particularly important or relevant, and discusses the strengths and weaknesses of these sets of indicators/composite indexes; and provides a description of an additional 31 sets of indicators and composite indexes broken down into economic, social, economic/social, and labour market areas. The report concludes that no existing framework currently includes all important concepts and linkages and that it is unlikely that one ever will. As the survey of the macro-indicators literature reveals, the development of a framework for macro-indicators involves choices related to the domains of interest, the purpose for which the indicator is designed, and the population to be covered, among others. Choices or tradeoffs must be made and a balance struck between conceptual sophistication and transparency and between complex linkages that could potentially confuse the user and simplicity.Well-being, Wellbeing, Well Being, Indicators, Indexes, Indices, Methodology, Economic Well-being, Economic, Social, Societal, Labour Market
