Search results for "22q11.2"
showing 6 items of 6 documents
A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field
2016
International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…
Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome.
2013
No abstract available
The first case of myoclonic epilepsy in a child with a de novo 22q11.2 microduplication
2011
Chromosome 22, particularly the q11.2 sub-band, has long been recognized as responsible for multiple congenital anomaly disorders. In particular, its susceptibility to subtle microdeletions or, more rarely, microduplications has been attributed to the presence of several low-copy repeats spanning the region as mediators of nonallelic homologous recombination that result in 22q11.2 rearrangements. While recent data suggest that the frequency of 22q11.2 microduplications could be approximately half of all deletions, now only 50 unrelated cases have been reported thus far. However, it is reasonable to suppose that microduplications of 22q11.2 may be largely undetected as a result of a less-dis…
Clinical features and follow-up in patients with 22q11.2 deletion syndrome
2014
Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…
INTELLECTUAL DISABILITY, EPILEPSY AND MILD DYSMORPHISMS DUE 22q11.2 DISTAL DUPLICATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF A 0.5 Mb MINIMAL C…
2016
INTELLECTUAL DISABILITY, EPILEPSY, MILD DYSMORPHISMS, 22q11.2 DISTAL DUPLICATION
Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental
2015
Resume La microdeletion 22q11.2 est le syndrome microdeletionnel le plus frequent de la population generale. Le phenotype associe des anomalies de l’appareil pharynge embryonnaire a un phenotype neurocomportemental. La presentation clinique du syndrome est extremement variable d’un individu a l’autre, quelle que soit la taille de la deletion, et plus de 180 manifestations ont ete decrites, aucune n’etant pathognomonique. Les symptomes psychiatriques, particulierement de nature psychotique, sont frequents dans la microdeletion 22q11.2 et de nombreux psychiatres sont amenes a rencontrer ces patients. La prise en charge doit tenir compte des particularites du syndrome. L’evaluation de la neuro…