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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.
The 16p11.2 recurrent deletion is <i>de novo</i> in most probands. Less commonly, the deletion is transmitted from a parent to a child in an autosomal dominant manner. Once a 16p11.2 recurrent deletion has been identified in a family member, prenatal and preimplantation genetic testing are possible. ….
In our report, 15 cases (0.07%, 15/20,884) of 16p11.2 microdeletions were identified by CMA, ranging from 0.256 Mb to 0.916 Mb (Fig. 2B). 5/15 cases had 16p11.2 BP2-BP3 deletion and the overlapping region included four morbid genes (TUFM, CD19, ATP2A1 and LAT). 10/15 cases had 16p11.2 BP4-BP5 deletion, with overlapping region covering five ...
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.
Hearing loss. <11%. Both sensorineural & conductive reported. Paroxysmal kinesigenic dyskinesia (PKD) ≤9%. Incl benign familial infantile seizures, PKD, & PKD w/infantile convulsions. Cardiac malformations. 6%. From: 16p11.2 Recurrent Deletion.
Select Features of the 16p11.2 Recurrent Deletion. An official website of the United States government. Here's how you know. The .gov means it's official. ... Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023.
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).
