M owat et al in 1998 delineated a new syndrome characterised by a distinct facial phenotype, Hirschsprung disease (HSCR), microcephaly, and mental retardation; they also identified a locus at chromosome 2q21-q23. The six children described were sporadic cases, and the authors suggested a contiguous gene syndrome or a dominant single gene disorder. Three further sporadic cases published earlier ...

BACKGROUND This study evaluated differences in caudate volumes in subjects with velo-cardio-facial syndrome due to a 22q11.2 (22qDS) deletion. Because psychosis is observed in 30% of adult subjects with 22qDS, this neurogenetic disorder could represent a putative model for a genetically mediated subtype of schizophrenia. METHODS Caudate volumes were measured on high-resolution magnetic resona...

RanBP1, a velocardiofacial syndrome/DiGeorge syndrome candidate gene, is expressed in the frontonasal processes, branchial arches, aortic arches, and limb buds. At these sites, RanBP1 apparently coincides with neural crest-derived mesenchymal cells. In addition, RanBP1 is expressed in the forebrain as well as in hindbrain regions previously associated with crest-derived mesenchymal cells.

As we have just seen, speech impairment is one of the most common findings in VCFS, occurring in at least 70% of cases (Shprintzen & Golding-Kushner, 2009). In this chapter, we discuss the sequelae, diagnosis, and management of velopharyngeal insufficiency (VPI), the disorder that leads to hypernasality. Articulation and language impairment are discussed in terms of their interrelationship with...

Introduction We present a new model-based framework for the statistical analysis of diffusion imaging data associated with specific white matter tracts. The framework takes advantage of the fact that several of the major white matter tracts are thin sheet-like structures that can be effectively modeled by medial representations. The approach involves segmenting major tracts and fitting them wit...

BACKGROUND Individuals with 22q11.2 deletion syndrome (22q11.2DS) have an elevated risk for schizophrenia, which increases with history of childhood anxiety. Altered hippocampal morphology is a common neuroanatomical feature of 22q11.2DS and idiopathic schizophrenia. Relating hippocampal structure in children with 22q11.2DS to anxiety and impaired cognitive ability could lead to hippocampus-bas...

1. Wilson Di, cross iE, Wren c, Scambler PJ, Goodship J. Minimum prevalence of 22q11 deletions. Am J Hum Genet. 1994;55:A169. 2. tézenas Du Montcel S, Mendizabai H, Aymé S, Lévy A, Philip N. Prevalence of 22q11 microdeletion. J Med Genet. 1996;33:719. 3. ryan AK, Goodship JA, Wilson Di, Philip N, LevyA, Seidel H, et al. Spectrum of clinical features associated with interstitial chromosome 22q11...

Chromosome 22q11 deletion syndrome (22q11DS) encompasses velocardiofacial syndrome (VCFS), DiGeorge syndrome (DGS), and conotruncal anomaly face syndrome (CTAFS). The disorder may represent the interface between genetics and brain-behavior relationships. As there is a strong relationship between the genetic syndrome and schizophrenia, individuals with the disorder are likely to be disproportion...

Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders. Using probes and cosmids from the DiGeorge critical region (DGCR), deletions of 22q11 were detec...

Del(22q11) is a common microdeletion syndrome with an extremely variable phenotype. Besides classical manifestations, such as velocardiofacial (Shprintzen) or DiGeorge syndromes, del(22q11) syndrome may be associated with unusual but probably causally related anomalies that expand its phenotype and complicate its recognition. We report here three children with the deletion and a chronic, erosiv...