Search results
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS).
This review aimed to update the clinical practice guidelines for managing children and ado-lescents with 22q11.2 deletion syndrome (22q11.2DS). The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions,
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
Mar 22, 2021 · 12-year-old boy currently is followed by multiple sub-specialists for problems caused by the chromosome 22q11.2 deletion syndrome (22q11DS) (Figure). He was born via spontaneous vaginal delivery, weighing 3033 g, to a 31-year-old G3P3 mother after a full-term pregnancy complicated only by mild polyhydramnios. Family history was non-contributory.
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?
What is 22q11 deletion syndrome?
Given the focus of this review, we will discuss the possible contributing factors that influence the neurodevelopmental outcome in 22q1.2 DS, the cognitive phenotype in 22q11.2 DS, the different developmental trajectories across life span, and the implications for clinical practice and management.
