Sentence examples for complex genomic disorders from inspiring English sources
A growing number of reports support the role of CNVs in the etiology of complex genomic disorders, such as the Smith-Magenis and Potocki-Lupski syndromes, Charcot-Marie-Tooth disease 1A (CMT1andand hereditary neuropathy with liability to pressure palsies (HNPP), Sotos syndrome, Williams-Beuren syndrome, Pelizaeus-Merzbacher disease and autism, among others [ 1].
One of the most successful applications of NGS technology is genome-wide discovery of causal variants in single gene disorders and complex genomic landscapes of many diseases.
CNVs can predispose to genomic disorders or complex genetic diseases such as autism and schizophrenia due to non correct recombinative events between non allelic CNVs [ 8- 11].
Using sequence-based, cytogenetic and genotyping approaches, we characterized six large inversion polymorphisms that map to regions associated with genomic disorders with complex segmental duplications mapping at the breakpoints.
In fact, BIR and FoSTeS seem to account for some of the CNVs and complex genomic rearrangements associated with cancer and genetic disorders 54– 54.
These findings provide a tractable, natural system towards investigating the causes and mechanisms of complex genomic rearrangements similar to those associated with several human disorders.
Recurrent NAHR for genomic disorders further supports the unstable nature of complex regions.
Unquestionably, many more genomic disorders are still to be defined and many Mendelian and complex traits may be shown to be caused by CNV, rather than SNPs of a given gene in selected patients.
Thus, genomic disorders encompass not only rare multiple congenital anomaly and mental retardation syndromes, but also common and complex traits, such as autism and schizophrenia, as well as other neurobehavioral phenotypes.
This LCR is involved in recurrent reorganizations causing different genomic disorders.
These are termed genomic disorders, in which the clinical phenotype is a consequence of abnormal dosage of gene(s) located within the rearranged genomic fragments.
