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Molecular investigations, Atrofie ottiche, Genetic, Laboratory, Next Generation Sequencing, NGS, Obesity, Sindromi da overgrowth
Mol Cytogenet. 2015 Jun 25 Authors Laurent Desch, Nathalie Marle, Anne-Laure Mosca-Boidron, Laurence Faivre, Marie Eliade, Muriel Payet, Clemence Ragon, Julien Thevenon, Bernard Aral, Sylviane Ragot, Azarnouche Ardalan, Nabila Dhouibi, Candace Bensignor,Christel Thauvin-Robinet, Salima El Chehadeh, and Patrick Callier. Abstract Prader-Willi syndrome (PWS) is characterized by hypotonia, delayed neuropsychomotor development, overeating, obesity and mental deficiency. This phenotype is encountered in other conditions, defining Prader-Willi-like syndrome (PWLS)….read more!
Molecular investigations, CGH-Array, Molecular karyotype, Human cytogenetic, Postnatal diagnosis, Intellectual disability, Obesity, Developmental delay
We invite you to read an interesting paper recently published on the journal Genetics in Medicine: “Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity“. Microgenomics Staff contributed to the draft of this publication. ABSTRACT: Submicroscopic deletions of chromosome band 2p25.3 are associated with intellectual disability and/or central obesity. Although MYT1L is […]
Molecular investigations, CGH-Array, Molecular karyotype, Postnatal diagnosis, Intellectual disability, Laboratory, Obesity, Publication
Mol Cytogenet. 2014 Aug 5. Authors Bonaglia MC, Giorda R, Zanini S. Abstract Terminal and interstitial deletions of 2p25.3 (size < Mb), detected by array-CGH analysis, have been reported in about 18 patients sharing common clinical features represented by early-onset obesity/ overweightness associated with intellectual disabilities (ID) and behavioural troubles. This observations led to hypothesize that 2p subtelomeric deletion should […]
Molecular investigations, CGH-Array, Intellectual disability, Obesity