Supervisors info:
Φρυσίρα Ελένη, Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Μαρία Τζέτη, Αναπλ. Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Ιωάννα Trager-Συνοδινού Καθηγήτρια, Ιατρική Σχολή, ΕΚΠΑ
Summary:
22q11.2 Microdeletion Syndrome (DiGeorge Syndrome, DS) is a chromosomal abnormality that causes congenital abnormalities, with common features that include heart abnormalities, immunodeficiency, hypoplasia/absence of thymus, facial malformations and developmental delay. The incidence ranges from 1/2,000-1/4,000 live births. DGS presents phenotypic heterogeneity, which can range from mild to severe. The wide range of clinical phenotypes include syndromes that were previously divided into discrete syndromes (eg DiGeorge syndrome, hyperopia-cardio-personal syndrome, cardiopulmonary syndrome) and are now known to be etiologically identical and are referred to as microdeletion syndrome 22q11.2. In most cases, the syndrome is caused due to a 3 Mb deletion in the chromosomal region 22q11.2 framed by repeated low copy number sequences. Diagnosis is made by clinical examination and the detection of abnormalities (eg cardiac). Diagnosis is confirmed by detection of the 22q11.2 deficit, using methods of fluorescent in situ hybridization (FISH), MLPA, or genomic hybridization microarray aCGH. Treatment depends on the accompanying abnormalities. Heart and/or palate surgery, speech therapy, nasogastric nutrition, calcium supplements and psychological support may be required. Regular immunological monitoring is also necessary. The prognosis varies and depends on the severity of the disease. Infant mortality is relatively low (~ 4%), while it is higher in adults than in the rest of the adult population.
The present study recorded the cases diagnosed with DiGeorge from the Laboratory of Clinical Genetics.
49 patients were enrolled. The most common causes of referral were heart disease.
The frequency of abnormalities in our cohort is close to the internationally reported. The diagnosis was made by fluorescence in situ hybridization (FISH) in the majority of cases.
Keywords:
Sydrome, DiGeorge, 22q11.2, Microdeletions
