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22 wrz 2009 · The 16p11.2 recurrent deletion involves the loss of one chromosome segment containing 25 annotated genes or transcripts [Kumar et al 2008, Marshall et al 2008, Weiss et al 2008]. The recurrent deletion is flanked by segmental duplications that contain four additional genes.
11 sty 2018 · The diagnosis of PRRT2-PxMD is established in a proband who has one of the following three findings on molecular genetic testing: a PRRT2 heterozygous pathogenic variant (~99% of affected individuals); the 16p11.2 recurrent deletion that includes PRRT2 (<1% of affected individuals); or biallelic PRRT2 pathogenic variants (<1% of affected ...
Diagnosis/testing: The diagnosis of 16p11.2 recurrent deletion is established by detection of a heterozygous ~593-kb recurrent deletion at the approximate position of chr16:29638676-30188531 in the reference genome (NCBI Build 38).
Targeted deletion analysis may be used to test at-risk relatives of a proband known to have the 16q11.2 recurrent deletion. 16p11.2 Recurrent Deletion. GeneReviews ® [Internet]. Adam MP, Feldman J, Mirzaa GM, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2024. Genomic Testing Used in the 16p11.2 Recurrent Deletion.
10 mar 2021 · The deletions in the 16p11.2 region found in our three patients are consistent with known contiguous gene deletion in the region of 16p11.2 (OMIM #611913). MLPA tests were also performed on samples from the parents of the first and second children to determine carrier status.
15 cze 2020 · Overall, 16p11.2 CNVs have been categorized into 3 main syndromes: deletion of the proximal region (OMIM 611913), reciprocal duplication of the proximal region (OMIM 614671), and deletion of the distal region (OMIM 613444).
15 maj 2020 · In this study, we focus on one specific susceptibility CNV disorder, 16p11.2 deletion syndrome. This rare condition is characterised by an increased risk of mild intellectual disability,...
