Laia Rodríguez-Revenga

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INTRODUCTION The study of mental retardation is one of the most complex fields in human genetics due to its high degree of clinical and genetic heterogeneity. About 50% of cases of mental retardation remain undiagnosed. It is known that about 6-10% of cases are due to subtelomeric rearrangements. Some of these are responsible for a clinically recognized(More)
Genomic rearrangements of chromosome 15q11-q13 are responsible for diverse phenotypes including intellectual disabilities and autism. 15q11.2 deletion, implicating common PWS/AS breakpoints BP1-BP2, has been described in patients with delayed motor and speech development and behavioural problems. Here we report the clinical and molecular characterisation of(More)
BACKGROUND Aproximately 5-10% of cases of mental retardation in males are due to copy number variations (CNV) on the X chromosome. Novel technologies, such as array comparative genomic hybridization (aCGH), may help to uncover cryptic rearrangements in X-linked mental retardation (XLMR) patients. We have constructed an X-chromosome tiling path array using(More)
INTRODUCTION The SOX5 gene encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. CASE REPORT We report a 10 years-old girl with developmental delay, behavior problems and dysmorphic features of this new syndrome with developmental delay. She had a 12p12 deletion involving SOX5. CONCLUSIONS(More)
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