Search results
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.
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).
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. ….
16 sty 2019 · Deletion and duplication of 16p11.2 (BP4–BP5) have been associated with an increased risk of intellectual disability and psychiatric disorder. This is the first study to compare the...
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 coordinates represent the minimum deletion size associated with the 16p11.2 recurrent deletion as designated by ClinGen. Deletion coordinates may vary slightly based on array design used by the testing laboratory.
30 sie 2010 · Genomic imbalances of an approximately 600-kb region in 16p11.2 (29.5–30.1 Mb) have been associated with autism, intellectual disability, congenital anomalies, and schizophrenia.
