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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 proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.
25 lip 2012 · The 16p11.2–p12.2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers.
The 16p11.2 deletion has been repeatedly associated with ASD, and accounts for approximately 1% of ASD cases (Weiss et al., 2008; Kumar et al., 2008; Fernandez et al., 2010). Moreover, ASD has been shown to be the second most prevalent diagnosis in 16p11.2 deletion carriers (Niarchou et al., 2019). In this study, two patients had a clinical ...
PMID: 20301775. Bookshelf ID: NBK11167. Excerpt. Clinical characteristics: The 16p11.2 recurrent deletion phenotype is characterized by motor speech disorder, language disorder, motor coordination difficulties, psychiatric conditions, and autistic features.
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder.
13 lip 2016 · 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.
