Disabilità Intellettiva, riarrangiamenti genomici, ittioli

Ittiosi, disabilità intellettiva, riarrangiamenti genomici

Sindrome da microduplicazione 17p13.3: caratterizzazione di una nuova regione critica per la variante clinica con palatoschisi

Sindrome da microduplicazione 17p13.3, palatoschisi

TUBEROUS SCLEROSIS COMPLEX IN A PATIENT CARRYING AN ATYPICAL GENOMIC REARRANGEMENT

TUBEROUS SCLEROSIS, GENOMIC REARRANGEMENT

Grave ipotonia neonatale con artrogriposi: descrizione di un caso clinico e problematiche diagnostiche

Epilessia temporale e manifestazioni parossistiche neurovegetative in età prescolare: descrizione di un caso clinico emblematico

Diagnosi precoce di disabilità intellettiva sindromica

delezione 17p11.2, Sindrome di Smith-Magenis, anomalie congenite multiple

Sindrome da duplicazione 1q21: variabile penetranza ed espressività clinica intrafamiliare di un riarrangimento genomico di circa 6 Mb non precedentemente descritto

Sindrome da duplicazione 1q21, riarrangimento genomico

Diagnosis and follow-up of complex congenital malformations/mental retardation (MRA/MR)

Complex congenital malformations, associated in 30% of cases with mental retardation, recognize different etiologies: environmental causes, mendelian disease, chromosomal abnormalities, imprinted anomalies. Frequently complex congenital disorders are rare diseases. Rare diseases are infrequent pathological conditions (prevalence in the general population of less than 1/2.000 live births1), and often poorly understood. Because of their rarity these morbid conditions often either go undiagnosed or are diagnosed late with a negative impact for both the affected person and the family. The birth prevalence is high (2-4% of all births). The diagnosis is essential to program complex and integrated…

Array CGH identifies a 823 kb Microduplication at 22q 11.22 encompassing the Rab36 gene in a Child with Autism Spectrum Disorder and Mild Dysmorphism

aCGH, microduplication, autism

Nuova mutazione del gene NIPBL in paziente affetto da Sindrome di Cornelia de Lange: report clinico e correlazione genotipo-fenotipo

gene NIPBL, Sindrome Cornelia de Lange

Atresia digiuno-ileale tipo apple-peel: raro esordio neonatale di fibrosi cistica

fibrosi cistica, atresia digiuno-ileale, apple-peel

Copy number variations in the etiology of epilepsy

Epilepsy is one of the most common neurological disorders in humans with a prevalence of 1% and a lifetime incidence of 3%. Idiopathic epilepsies occur in the absence of identifiable causal factors, but recent evidences show the role of genetic factors in the developing of these disorders. In particular, several studies focused their attention on the role of copy number variations (CNVs) in the etiology of epilepsy. In recent years, many CNVs have been identified, like 15q11.2, 15q13.3 and 16p13.11 microdeletions, 22q11.2 microduplication and many others. Possible candidate genes included in these regions were also studied and they seem to be involved in neuronal transmission and ion transp…