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Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2335-2344. Date of Electronic Publication: 2021 May 14. - Publication Year :
- 2021
-
Abstract
- Chromosomal microarray analyses (CMA) have greatly increased both the yield and diagnostic accuracy of postnatal analysis; it has been used as a first-tier cytogenetic test in patients with intellectual disability, autism spectrum disorder, and multiple congenital abnormalities. During the last 15 years, we performed CMA in approximately 8,000 patients with neurodevelopmental and/or congenital disorders, of which 13 (0.16%) genetically catastrophic complex chromosomal rearrangements were identified. These ultrarare rearrangements showed clustering of breakpoints, characteristic of chromoanagenesis events. Al1 13 complex events display underlying formation mechanisms, originating either by a synchronization of the shattering of clustered chromosome regions in which regional asynchrony of DNA replication may be one of the main causes of disruption. We provide an overview of the copy number profiling in these patients. Although several previous studies have suggested that chromoanagenesis is often a genetic disease source in postnatal diagnostic screening, due to either the challenge of clinical interpretation of these complex rearrangements or the limitation of microarray resolution relative to the small size and complexity of chromogenic induced chromosome abnormalities, bringing further attention and to study its occurrence in the clinical setting is extremely important.<br /> (© 2021 Wiley Periodicals LLC.)
- Subjects :
- Abnormalities, Multiple epidemiology
Adolescent
Adult
Brazil epidemiology
Child
Child, Preschool
Chromosome Disorders epidemiology
Comparative Genomic Hybridization
DNA Copy Number Variations
Developmental Disabilities diagnosis
Developmental Disabilities epidemiology
Developmental Disabilities genetics
Diagnostic Tests, Routine
Female
Genetic Association Studies
Humans
Infant
Male
Phenotype
Polymorphism, Single Nucleotide
Young Adult
Abnormalities, Multiple diagnosis
Abnormalities, Multiple genetics
Chromosome Aberrations
Chromosome Disorders diagnosis
Chromosome Disorders genetics
Oligonucleotide Array Sequence Analysis methods
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 185
- Issue :
- 8
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 33988290
- Full Text :
- https://doi.org/10.1002/ajmg.a.62237