Publications by authors named "Celine de La Rochebrochard"
Rhombencephalosynapsis is an uncommon cerebellar malformation defined by vermian agenesis with fusion of the hemispheres and of the dentate nuclei. Embryologic and genetic mechanisms are still unknown, and to date, no animal models are available. Ultrasound diagnosis is generally suspected after 22 weeks of gestation, and usually the abnormality is suggested by ventriculomegaly.
View Article and Find Full Text PDF13q deletion is characterized by a wide phenotypic spectrum resulting from a partial deletion of the long arm of chromosome 13. The main clinical features are mental retardation, growth retardation, craniofacial dysmorphy and various congenital defects. Only one recent Italian study was aimed at determining genotype-phenotype correlations among 13q deletions from a group of mainly live born children, using array-CGH and FISH.
View Article and Find Full Text PDFArticle Synopsis
- The study discusses the development of a new assay, QMPSF, for detecting genomic microdeletions and microduplications, particularly in patients with mental retardation and associated features.
- Researchers screened 293 patients with mental retardation, identifying specific genetic deletions, including a notable 5q35 deletion linked to Sotos syndrome and a 22q11 deletion associated with obesity and facial dysmorphism.
- The QMPSF assay has the potential to expand to include more genetic loci, improving the detection of microduplication/microdeletion syndromes and assisting in understanding their prevalence among individuals with idiopathic mental retardation.