Kieran C. Murphy, Peter J. Scambler (eds): Velo-cardio-facial syndrome: a model for understanding microdeletion disorders
نویسندگان
چکیده
منابع مشابه
Velo-Cardial-Facial Syndrome: A Model for Understanding Microdeletion Disorders, ed
The recognition of velo-cardio-facial syndrome as a specific congenital malformation syndrome is a relatively recent development for so common a disorder. The syndrome has appeared in the medical literature either as a specific and distinct diagnostic entity or as part of a discussion of broader symptoms (such as immune compromise, heart anomalies, or speech disorders) since the 1950s, but the ...
متن کاملVelo-cardio-facial syndrome: 30 Years of study.
Velo-cardio-facial syndrome is one of the names that has been attached to one of the most common multiple anomaly syndromes in humans. The labels DiGeorge sequence, 22q11 deletion syndrome, conotruncal anomalies face syndrome, CATCH 22, and Sedlacková syndrome have all been attached to the same disorder. Velo-cardio-facial syndrome has an expansive phenotype with more than 180 clinical features...
متن کاملExpression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
The murine Cdcrel-1 (Pnutl1) gene belongs to the family of septins, which are thought to be involved in cytokinesis in yeast, Drosophila and vertebrates. Recent studies implicate Cdcrel-1 in the regulation of vesicle transport in neurons of the adult brain. The human homologue, hCDCREL-1 maps to chromosome 22q11.2, a region commonly deleted in patients displaying velo-cardio-facial syndrome (VC...
متن کاملProcessing facial emotions in adults with velo-cardio-facial syndrome: functional magnetic resonance imaging.
We studied the functional neuroanatomy of social behaviour in velo-cardio-facial syndrome (VCFS) using a facial emotional processing task and functional magnetic resonance imaging in adults with this syndrome and controls matched for age and IQ. The VCFS group had less activation in the right insula and frontal brain regions and more activation in occipital regions. Genetically determined abnor...
متن کاملCortical gyrification in velo-cardio-facial (22q11.2 deletion) syndrome: a longitudinal study.
INTRODUCTION Velo-cardio-facial syndrome (VCFS) has been identified as an important risk factor for psychoses, with up to 32% of individuals with VCFS developing a psychotic illness. Individuals with VCFS thus form a unique group to identify and explore early symptoms and biological correlates of psychosis. In this study, we examined if cortical gyrification pattern, i.e. gyrification index (GI...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2005
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-005-0325-x