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The GCV achieved to pass the evaluation of the Health Research Foundation of 
Highlights
the Balearic Islands (FISIB) as Consolidated Research Group (PI: Jordi Rosell ) in 

August 2013.

The course “Gentica Avui” held in March by Genetics Unit was a great success 
with a great number of participants.

The highlight in 2013 of the GCV :

Today we are in the final validation of the study of 69 adult patients, which were 

hospitalized in a public daycare and never have been examined from a genetically 
point of view. The study by aCGH was diagnostic in 10% of the patients, and was 

normal in 50% (34 patients). Two patients more were diagnosed by FISH and mo- 

lecular methods of del22q11 and Cornelia de Lange syndromes. In the remaining 
patients we detected VOUS and are now in the phase of family study and final 

validation.

It has continued the pilot carrier of Fragile X syndrome study with preliminary re- 

sults which may lead to changes in diagnostic methodology in this disease. In the 
ambit of this disease, the University Hospital Espases has launched the Multidisci- 

plinary Clinical Monitoring Unit of patients with Fragile X syndrome.

The Metabolic Neurology group participates in the development of therapeutic 13
guide in Mucopolysaccharidosis type I and the Neuropediatric group in the epi- 20
T 
demiological study to assess the severity of RSV infection in patients with severe OR
P
neurological disease ( SENEP -EPI - 2013-01 ) .
RE
L 
It has also awared our group with a FIS project (PI: Damia Heine): “Determina- A
tion of the genetic and molecular basis of congenital heart defects through family NU
N
studies and animal models”
 A
R /
E
ER
B
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