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This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS).
May 5, 2023 · The complex phenotype of children affected with 22q11.2 DS may show considerable intersubject variability, and the expanded clinical manifestations comprise craniofacial, neurological, cognitive, behavioral, ocular, speech and hearing, musculoskeletal, and internal organs, as well as airway, gastrointestinal or renal abnormalities . The ...
- 10.3390/ijms24098317
- 2023/05
- Int J Mol Sci. 2023 May; 24(9): 8317.
Aug 3, 2022 · Mother-child interaction as a window to a unique social phenotype in 22q11.2 deletion syndrome and in Williams syndrome. See the differences between mother-child relationships in individuals with DS 22q11.2, Williams Syndrome and developmental disability (disorders of the development).
- 10.3390/children9081168
- 2022/08
- Children (Basel). 2022 Aug; 9(8): 1168.
Jun 1, 2015 · Although its prevalence is quoted as between 1 in 3,000 and 1 in 6,000, the phenotype may be subtle, leading to underdiagnosis of the most mildly affected individuals. The 22Q11.2DS is a contiguous gene syndrome; the critical region includes up to 40 genes.
- Elaine Pereira, Robert Marion
- 2015
Oct 1, 2020 · At present, the 22q11.2 DS is a recommended term if the hemizygous deletion of 22q11.2 has been detected. It is caused by a nonallelic meiotic recombination in meiosis I of the low copy repeats (LCR) region on the long arm of chromosome 22 at q11.2.
Mar 1, 2023 · The vast majority of scientific literature relevant to clinical management of children with 22q11.2DS involved study designs in low confidence categories, 16 with few randomized clinical trials, formal systematic reviews, or meta-analyses.
People also ask
What is the phenotype of 22q11 DS?
What types of abnormalities affect chromosome 22q11?
What is the difference between postnatal phenotype and prenatal diagnosis of 22q11 DS?
How is 22q11 DS diagnosed?
Mar 22, 2021 · As demonstrated by this boy’s complicated course, practi-cal multi-system guidelines are needed to assist the general practitioner and specialists in caring for patients with 22q11DS. Although still under-recognized, detection, includ-ing in the prenatal setting, is increasing.
