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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.
Zespół delecji chromosomu 16p11.2 to rzadka choroba genetyczna, której częstotliwość występowania szacuje się na 3 przypadki na 10 tysięcy urodzeń. Dotychczas w literaturze medycznej opisano kilkanaście zdiagnozowanych pacjentów. Podstawy genetyczne zespołu delecji chromosomu 16p11.2.
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity.
22 lip 2020 · Methods. To better understand the nature and presentation of the syndrome throughout development, we present three different, unrelated clinical cases of children with 16p11.2 deletion and provide a detailed description of their clinical manifestations. Results.
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).
17 cze 2022 · In our analysis of Proband 2 that inherited the 16p11.2 deletion from his mother, when we considered a digenic model, we identified a paternal stop gain variant in CFB (complement factor B).
15 cze 2020 · Chromosome 16p11.2 is one of the susceptible sites for recurrent copy number variations (CNVs) due to flanking near-identical segmental duplications. Five segmental duplications, named breakpoints 1 to 5 (BP1–BP5), have been defined as recombination hotspots within 16p11.2.
