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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. ….
30 wrz 2010 · GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
10 mar 2021 · MLPA P297-C1 analyses indicated a genome imbalance of deletions in the 16p11.2 chromosome region, including the HIRIP3 (OMIM *603365), DOC2A (OMIM *604567), MAZ (OMIM *600999), MAPK3 (OMIM *601795), and MVP (OMIM *605088) genes (Additional file 2: Fig. S1, A, D).
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.
15 cze 2020 · Sharing the same genetics, breakpoints, and overall phenotypes, these twins showcase the phenotypic variability of the CNVs. Looking at the major phenotypes found to be associated with 16p11.2 CNVs, only 1 in 6 patients with proximal deletion presented with macrocephaly and 1 (of 3 tested) with ASD.
The 16p11.2 deletion neurologic phenotype is characterized by highly prevalent speech articulation abnormalities, limb and trunk hypotonia with hyporeflexia, abnormalities of agility, sacral dimples, seizures/epilepsy, large head size/macrocephaly, and Chiari I/cerebellar tonsillar ectopia.
