2007
DOI: 10.1590/s1415-47572007000100006
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Abstract: The velocardiofacial syndrome (VCFS), a condition associated with 22q11.2 deletions, is characterized by a typical facies, palatal anomalies, learning disabilities, behavioral disturbances and cardiac defects. We investigated the frequency of these chromosomal deletions in 16 individuals with VCFS features who presented no cardiac anomalies, one of the main characteristics of VCFS. Fluorescent in situ hybridization (FISH) with the N25 (D22S75; 22q11.2) probe revealed deletions in ten individuals (62%). Therefo… Show more

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Cited by 8 publications
(3 citation statements)
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“…Variable penetrance in different races or bias in patient selection may be responsible for this phenomenon. Some investigators suggested that the absence of cardiac anomalies should not impede the clinical diagnosis for a patient with VCFS [28], [29]. In addition, the clinical manifestations of thepatient with 22q11dup seem milder than those of patients with 22q11del herein.…”
Section: Discussionmentioning
confidence: 99%
“…Variable penetrance in different races or bias in patient selection may be responsible for this phenomenon. Some investigators suggested that the absence of cardiac anomalies should not impede the clinical diagnosis for a patient with VCFS [28], [29]. In addition, the clinical manifestations of thepatient with 22q11dup seem milder than those of patients with 22q11del herein.…”
Section: Discussionmentioning
confidence: 99%
“…no. 192430] is a multiple malformation syndrome, which is characterized by highly variable clinical features, including cleft palate, cardiac anomalies, atypical facial development and cognitive and neuropsychological difficulties ( 1 , 2 ). The first case of VCFS was described in 1955 by Eva Sedlačková.…”
Section: Introductionmentioning
confidence: 99%
“…2 locus with a prevalence estimated 1 in 4, 000 live births The condition may actually be more common than is estimate. [1,2,3] . Prenatal Fluorescence in Situ Hybridization (FISH) analysis is available in high-risk pregnancies by amniocentesis at about 15-18 weeks of gestation.…”
Section: Introductionmentioning
confidence: 99%