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.
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ABSTRACT:
SUBMITTER: Bonaglia MC
PROVIDER: S-EPMC4131807 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
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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.
Bonaglia Maria Clara MC Giorda Roberto R Zanini Sergio S
Molecular cytogenetics 20140805
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 be associated with syndromic obesity and MYT1L became the main candidate gene for ID and obesity since it is deleted or disrupted in all h ...[more]
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