Member checking, also known as participant or respondent validation, is a technique for exploring the credibility of results. Data or results are returned to ...

Noninvasive cell-free DNA prenatal screening for 22q11.2 deletion syndrome can detect most affected cases, including smaller nested deletions, ...

Abstract. Chromosome 22q11.2 deletion syndrome is the most common microdeletion syndrome in humans. The effects are protean and highly variable, making a ...

Our goals were to assess the population-based birth prevalence of the 22q11.2 deletion and its associated phenotype and its impact on the occurrence of heart ...

Abstract. Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1: ...

Oct 20, 2007 · Abstract. Velocardiofacial syndrome, DiGeorge syndrome, and some other clinical syndromes have in common a high frequency of hemizygous ...

A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. Classic evaluations of genetic ...

2 duplication syndrome would benefit from care coordinated by a multidisciplinary team and managed according to the 22q11.2 deletion syndrome guidelines.