Publications by authors named "M Jamar"
Article Synopsis
- - A Belgian study evaluated postnatal development in children diagnosed prenatally with non-benign copy number variants (CNVs) by analyzing data from genetic centers, focusing on cases from May 2013 to February 2015.
- - Researchers compared these children to a control group (children with invasive procedures but without significant CNVs), using questionnaires to assess development at 36 months.
- - Results indicated that children with specific CNVs showed significant differences in communication and personal-social skills compared to the control group, highlighting the need for more cases to strengthen the findings.
Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs.
View Article and Find Full Text PDFAn increasing number of bioinformatic tools designed to detect CNVs (copy number variants) in tumor samples based on paired exome data where a matched healthy tissue constitutes the reference have been published in the recent years. The idea of using a pool of unrelated healthy DNA as reference has previously been formulated but not thoroughly validated. As of today, the gold standard for CNV calling is still aCGH but there is an increasing interest in detecting CNVs by exome sequencing.
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- The genomic profile of multiple myeloma (MM) categorizes patients into two groups: a favorable hyperdiploid group and an unfavorable nonhyperdiploid group, but this classification misses other important factors affecting prognosis.
- A study of 162 patients revealed high occurrences of X chromosome alterations, particularly partial Xq duplication linked to inactive X deletion in females, which may indicate aneuploidy and high chromosomal breakage rates.
- Patients with significant chromosomal breakage generally had reduced survival rates, with certain genes in the altered regions, such as IKBKG and IRAK1, having potential roles in cancer and being important targets for specific MM treatments.
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA).
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