Obesity

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

30 Jun , 2015 News from the world

6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

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!

, , , , , , ,

New publication of Microgenomics Staff!

1 Oct , 2014 News from Microgenomics

New publication of Microgenomics Staff!

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 […]

, , , , , , ,

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

29 Aug , 2014 News from the world

A new patient with a terminal de novo 2p25.3 deletion of 1.9 Mb associated with early-onset of obesity, intellectual disabilities and hyperkinetic disorder.

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 […]

, , ,