ARVCF (Armadillo repeat gene deleted in Velo-cardio-facial syndrome) is a candidate gene for the related developmental abnormalities Velo-cardio-facial syndrome (VCFS) and DiGeorge syndrome (DGS) (Sirotkin et al., 1997), characterized by a wide spectrum of phenotypes such as conotruncal heart defects, cleft palate and facial dysmorphology (Shprintzen et al., 1981; Young et al., 1980). The gene ...

Fourteen statistics novices were asked to solve three statistics word problems under standard (SGS) or reduced (RGS) goal specificity. Later, they were asked to solve both structurally identical and structurally different transfer problems, and their structural knowledge of the domain was assessed. Results indicate that participants in the RGS condition performed better on the structurally diff...

Background: Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) occurs in approximately 1:4,000 live births with a complex and variable presentation that includes medical, socioemotional and psychological symptoms with intellectual impairment. Cognitive impairments in spatiotemporal and visuospatial attention have also been reported. However, maintenance of selective attention to dynamic and inter...

OBJECTIVE The MAPK/ERK signaling pathway has been implicated in several craniosynostosis syndromes and represents a plausible target for therapeutic management of craniosynostosis. The causes of sagittal nonsyndromic craniosynostosis (sNSC) have not been well understood and the role that MAPK/ERK signaling cascade plays in this condition warrants an investigation. We hypothesized that MAPK-sign...

Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a result of a hemizygotic microdeletion that results in a variety of impairments in children including greater risk for psychiatric ailments in adulthood. We used high-resolution magnetic resonance imaging to accurately quantify the length and, for the first time, volume, of the cavum septum pellucidum (CSP) in children aged 7 to 14years with ...

OBJECTIVE Velocardiofacial syndrome is a common genetic condition often accompanied by mild cognitive impairment. Children and adolescents with velocardiofacial syndrome also are at greater risk for developing serious neuropsychiatric disorders in adulthood, particularly schizophrenia-like disorders. The purpose of this preliminary study was to 1) elucidate through brain imaging the neurobiolog...

Microdeletion of 22q11 is responsible for DiGeorge syndrome, velocardiofacial syndrome, congenital conotruncal heart defects, and related disorders. We report our experiences on prenatal diagnosis by fluorescence in situ hybridization (FISH) for 22q11 deletion in two fetuses with tetralogy of Fallot. Karyotyping and FISH of the parents revealed that one fetus inherited the disease from maternal...

AIM 22q11.2 deletion syndrome (22q11.2DS) affects catechol-O-methyl-transferase (COMT), which involves the degradation of norepinephrine (NE). Clinically, adults with 22q11.2DS are at increased risk for sudden unexpected death. Although the causes are likely multifactorial, increased cardiac sympathetic activity with subsequent fatal arrhythmia, due to increased levels of NE, should be consider...

SGs can be visualized in cells by immunostaining of specific protein components or polyA+ mRNAs. SGs are highly dynamic and the study of their assembly and fate is important to understand the cellular response to stress. The deficiency in key factors of SGs like G3BP (RasGAP SH3 domain Binding Protein) leads to developmental defects in mice and alterations of the Central Nervous System. To stud...

OBJECTIVE To compare the outcomes of surgical correction of velopharyngeal insufficiency (VPI) in patients with velocardiofacial syndrome (VCFS) and a non-VCFS group. DESIGN Twenty-five patients with VCFS (16 girls and 9 boys) underwent palatal lengthening for VPI between 1986 and 2001. The mean age at surgery was 6.4 years. Revision was defined as the need for secondary sphincter pharyngopla...