European guidelines for constitutional cytogenomic analysis

Abstract

With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.

Null variants in AGRN cause lethal fetal akinesia deformation sequence

“…The array comparative hybridization revealed 148 kbp deletion on chromosome 1 (961 395‐1 109 913). However, according to guidelines for prenatal diagnostics it was not reported in the result since CNVs in this region are present in the Database of Genomic Variations and AGRN is associated with autosomal recessive inheritance . Therefore, the result of array comparative hybridization was reported as normal.…”

Cytopostgenomics: What is it and how does it work?

“…Accordingly, I take the opportunity to contribute a Perspectives in Genomics article to re-introduce cytopostgenomics in remembrance of Professor Yuri B. Yurov, the brilliant researcher of chromosomes and cellular genomes.More than a decade ago, cytogenomics (molecular cytogenomics) was introduced to define a body of research in human genomics (genetics) focused on genomic variations and architecture at microscopic/submicroscopic level and at molecular resolutions [3]. Later, it expanded to include a wide spectrum of applications of whole-genome Copy Number Variation (CNV) analysis (cytogenomic analysis or analysis of cytogenomic variations) in diagnostic research [4,5].Currently, cytogenomics (in its widest sense) seems to encompass almost all areas of chromosome biology addressed in the genomic context [1,[3][4][5]. Using postgenomic approaches to chromosomal variations and instability, a number of discoveries in chromosome biology and re-evaluations of current concepts in genomics have been made [6].…”

“…Moreover, genome-environment interactions highlighting normal and pathogenic responses of cellular genomes to environmental stimuli, which partially underlie somatic mutagenesis, have been highlighted [10]. The variable effects of the genomic variations have resulted in the interpretational problem of cytogenomic data [3][4][5][6]11]. Fortunately, postgenomic research has provided numerous bioinformatic opportunities to solve the problem by proposing a variety of algorithms for processing molecular cytogenetic and (cyto)genomic data [11,12].…”

“…More than a decade ago, cytogenomics (molecular cytogenomics) was introduced to define a body of research in human genomics (genetics) focused on genomic variations and architecture at microscopic/submicroscopic level and at molecular resolutions [3]. Later, it expanded to include a wide spectrum of applications of whole-genome Copy Number Variation (CNV) analysis (cytogenomic analysis or analysis of cytogenomic variations) in diagnostic research [4,5].…”

“…Currently, cytogenomics (in its widest sense) seems to encompass almost all areas of chromosome biology addressed in the genomic context [1,[3][4][5]. Using postgenomic approaches to chromosomal variations and instability, a number of discoveries in chromosome biology and re-evaluations of current concepts in genomics have been made [6].…”