SHORT REPORTSVelo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus
References (11)
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Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome
Genomics
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Localisation of 27 DNA markers to the region of human chromosome 22q11-pter deleted in patients with the DiGeorge syndrome and duplicated in the der22 syndrome
Genomics
(1990) Mendelian inheritance in Man
(1990)Velo-cardio-facial syndrome
Molecular genetic analysis of the DiGeorge sequence
(1991)
Cited by (380)
Communication in people with 22q11 deletion syndrome: Voice and speech
2022, Revista de Logopedia, Foniatria y AudiologiaGenetics, mechanism, and pathophysiology of 22q11.2 deletion syndrome
2022, The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and TreatmentAssociation of genetic variants at 22q11.2 chromosomal region with cognitive performance in Japanese patients with schizophrenia
2019, Schizophrenia Research: CognitionCitation Excerpt :Here, we focus on the chromosomal segment spanning ~3.0 Mb or nested 1.5 Mb in size on the q11.2 band of chromosome 22, a region known as 22q11.2, with a tendency to undergo heterozygous multigene deletion, which in turn markedly increases the risk for neuropsychiatric disorders (Gur et al., 2017; Jonas et al., 2014). Several lines of linkage study suggesting the involvement of 22q11.2 region in psychosis (Hamshere et al., 2005; Williams et al., 2003) were preceded by studies in the early 1990s showing the link between 22q11.2 hemizygous deletion and schizophrenia (Driscoll et al., 1992; Pulver et al., 1994; Scambler et al., 1992; Shprintzen et al., 1992). A recent large-scale collaborative study showed that schizophrenia and a broad range of psychotic disorders were present in 30% and 41% of adults, respectively, among 1402 participants with 22q11.2 deletion (22q11.2 D) syndrome (Schneider et al., 2014).
Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome: A survey of practice patterns
2019, International Journal of Pediatric OtorhinolaryngologyCitation Excerpt :Congenital VPD in this population may result from velopharyngeal disproportion, characterized by structural anomalies, such as a deep and/or wide pharynx as well as dysfunction of the musculature of speech [2,4,5]. 22q11.2DS has an estimated prevalence of 1 in every 2000 to 4000 live births in the Unites States, although under-diagnosis is suspected due to its clinical variability [6,7]. For instance, a recent European study identified 22q11.2DS in 1 out of 992 unselected fetuses (without cardiac or palatal anomalies) [8,9].