Impacts of variants of uncertain significance on parental perceptions of children after prenatal chromosome microarray testing
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DOI: 10.1002/pd.5323
Abstract: There are concerns regarding the potential harms in receipt of prenatal chromosome microarray (CMA) results, particularly variants of uncertain significance (VUS). We examined the influence that the return of genomic results had on parental well‐being… read more here.
Keywords: variants uncertain; uncertain significance; prenatal chromosome; chromosome microarray ... See more keywords
Prenatal diagnosis with chromosome microarray and pregnancy outcomes of fetuses with biliary tract system abnormalities
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6234
Abstract: To investigate the prenatal diagnostic value of chromosome microarray analysis (CMA) in fetuses presenting with ultrasound‐based biliary tract system (BTS) anomalies. read more here.
Keywords: biliary tract; prenatal diagnosis; tract system; chromosome microarray ... See more keywords
A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.10.010
Abstract: Microduplications involving 1q32.1 chromosomal region have been rarely reported in literature. Patients with these microduplications suffer from intellectual disability, developmental delay and a number of dysmorphic features, although no clear karyotype/phenotype correlation has yet been… read more here.
Keywords: analysis; kdm5b gene; microduplication; chromosome microarray ... See more keywords
Offering pregnant women different levels of genetic information from prenatal chromosome microarray: a prospective study
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DOI: 10.1038/s41431-017-0084-0
Abstract: This study aimed to examine the choice pregnant women make about the amount of fetal genetic information they want from chromosome microarray. Women having invasive prenatal testing in the absence of fetal structural abnormality were… read more here.
Keywords: information; women different; pregnant women; offering pregnant ... See more keywords
Uniparental Disomy of Chromosome 15 in Two Cases by Chromosome Microarray: A Lesson Worth Thinking
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DOI: 10.1159/000477520
Abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders caused by loss of function of the imprinted genes at 15q11q13. A 5-7 Mb paternal/maternal deletion of chromosomal region 15q11.2q13 is the major genetic cause… read more here.
Keywords: uniparental disomy; disomy chromosome; heteroupd isoupd; chromosome microarray ... See more keywords
Evaluation of Chromosome Microarray Analysis in a Large Cohort of Females with Autism Spectrum Disorders: A Single Center Italian Study
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm10040160
Abstract: Autism spectrum disorders (ASD) encompass a heterogeneous group of neurodevelopmental disorders resulting from the complex interaction between genetic and environmental factors. Thanks to the chromosome microarray analysis (CMA) in clinical practice, the accurate identification and… read more here.
Keywords: medicine; spectrum disorders; analysis; cnvs ... See more keywords