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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.
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 ...
In neurological exams performed in clinic in Simons Searchlight, the most common findings in people with a 16p11.2 duplication included low muscle tone and weakness, underactive or overactive reflexes (a test of nerve impulses), and motor tremor (slight shaking or trembling of the hands).
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. ….
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).
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.
Genomic Testing Used in the 16p11.2 Recurrent Deletion. 1. See Molecular Genetics for details of the deletion and genes of interest. 2. Standardized ISCN annotation and interpretation for genomic variants from the Clinical Genome Resource (ClinGen) project (formerly the International Standards for Cytogenomic Arrays [ISCA] Consortium).
