Search results
This review aimed to update the clinical practice guidelines for managing children and adolescents with 22q11.2 deletion syndrome (22q11.2DS).
The 22q11.2 Society, the international scientific organization studying chromosome 22q11.2 differences and related conditions, recruited expert clinicians worldwide to revise the original 2011 pediatric clinical practice guidelines in a stepwise process: (1) a systematic literature search (1992-2021), (2) study se-lection and data extraction by ...
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.
Oct 1, 2020 · The diagnostic challenge is the wide variation rendered through the clinical spectrum of 22q11.2 DS; it is associated with >180 features. 8 None of these features are pathognomonic. In addition, specific cytogenetic tests are required to confirm the actual 22q11.2 deletions.
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
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 ...
People also ask
What is the phenotype of 22q11 DS?
What types of abnormalities affect chromosome 22q11?
What is 22q11.2 deletion syndrome?
What is the difference between postnatal phenotype and prenatal diagnosis of 22q11 DS?
Jan 13, 2024 · In some cases, an affected parent may pass DiGeorge syndrome to a child. If you're worried about a family history of 22q11.2 deletion syndrome or if you already have a child with the syndrome, you may want to see a doctor who specializes in genetic conditions. This doctor is called a geneticist.
