hrp0089p3-p136 | Fat, Metabolism and Obesity P3 | ESPE2018

Proximal Microdelection 16p11.2 Syndrome

Leo Francesco , Madeo Simona Filomena , Baraldi Alessandro , Predieri Barbara , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Clinical history and symptoms: XX, 9.37 years, was referred to our Clinic for obesity and psycho-motor delay. Family history: Fibromyalgic mother, two maternal cousins with psycho-motor delay, paternal uncle with epilepsy and intellectual disability. Born at term from caesarean section for placental detachment after physiological pregnancy (birth weight g 1900, SGA). In the first years of life she had psychomotor retardation, episodes of affective spasms, nocturnal enuresis, a...

hrp0089p3-p157 | Fat, Metabolism and Obesity P3 | ESPE2018

A Not So ‘Simple Obesity’

Poluzzi Silvia , Madeo Simona Filomena , Rossi Gloria , Bruzzi Patrizia , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity is the consequence of a complex interaction among several factors: environment, genetics, endocrine disorders, medications and other conditions. Genetic factors are described to be causal factors in up to 30–50% of overweight conditions. Although polygenetic obesity is by far the most commonly observed, several obesity related syndromes associated with single gene defects have been identified.Case presentation: A three year old gir...

hrp0084p3-919 | GH & IGF | ESPE2015

Familial Short Stature Associated to Terminal Microdeletion of 15q26.3: Variable Phenotype not Involving the IGF1 Receptor Gene

Lucaccioni Laura , Madeo Simona F , Stanghellini Ilaria , Bruzzi Patrizia , Predieri Barbara , Iughetti Lorenzo , Percesepe Antonio

Background: Terminal deletions of chromosome 15q are associated with different degrees of pre- and post-natal growth failure, dysmorphic features, functional impairments and congenital anomalies. Although monosomies of 15q26 do not represent a classical contiguous gene syndrome, candidate genes for selected features have been identified. Short stature is referred to deletions of the IGF1-R gene, located on 15q26.3. We demonstrate evidence of phenotype comparable with 15q26 mon...

hrp0092t6 | Top 20 Poster | ESPE2019

Obesity in Pediatric Age: The Analysis of Genomic Rearrangements

Filomena Madeo Simona , Ciancia Silvia , Leo Francesco , Bruzzi Patrizia , Predieri Barbara , Stanghellini Ilaria , Calabrese Olga , Iughetti Lorenzo

Childhood obesity became a global plague: 9% of Italian children (17% of USA children) is obese and 21% is overweight. Nowadays only a small number of obese children undergoes genetic analysis, usually when obesity is associated with dysmorphic features. Our purpose was to identify genomic rearrangement causing obesity: we analyzed the DNA of 52 children by array-CGH (platform CytoScan-HD, Affymetrix). Patients included in our study were 29 males (55,8%) and 23...