Naslov
WILLIAMS AND CATCH22 SYNDROMES &#8211 ; CLINICAL AND GENETICAL DIAGNOSIS.

Autori
Malčić, Ivan ; Kniewald, Hrvoje ; Barić, Ivo ; Begović, Davor ; Jelušić, Marija ; Lasan, Ružica.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
European Journal of Human Genetics / Andrew, Read P - : Nature publishing group, 2001

Skup
European Human Genetics Conference

Mjesto i datum
Beč, Austrija, 25.05.2001. - 28.05.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Williams syndrome; CATCH 22; diagnosis

Sažetak
Williams and CATCH22 syndromes represent two clinical syndromes with multiple organ involvement, with well recognized genetical varities. We present 14 patients (7 with Williams and 7 with CATCH22 syndrome), in whom the diagnosis was confirmed by demonstration of deletions with flourescent in situ hybridization (FISH). Williams syndrome is generally characterized by mental deficiency, gregarious personality, unusual "elfin" facies, supravalvular aortic stenosis and idiopathic infantile hypercalcaemia. Patients with Williams syndrome show a hemizygous submicroscopic deletion of 7q11.23 detectable by FISH. The deleted portion of the chromosome corresponds to the elastin gene. We report 7 patients (3 girls and 4 boys) with characteristics of Williams syndrome and FISH verified deletions of 7q11.23. These patients, showed the characteristic facies and gregarious personalities. Cardiac evaluation revealed in all 7 children presence of supravalvular aortic stenosis (2 underwent surgical procedure by Doty), and in 4 patients peripheral pulmonary stenosis. Hypercalcaemia was not documented in these patients. Learning difficulties is present in all patients. Chromosome analyses done on peripheral blood were found to be normal in all patients. CATCH22 syndrome, the acronym (Cardiac defect, Abnormal face, Thymic hypoplasia, Cleft palate and Hypocalcemia), as a concept that comprises DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome, is connected with submicroscopic 22q11.2 deletion. We present 7 patients with CATCH22 syndrome with 22q11.2 microdeletion. Major cause of morbidity in those children was congenital heart disease (CHD) (4 with tetralogy of Fallot, 2 with persistent truncus arteriosus and 1 child with pulmonary atresia). Other phenotypic characteristic included abnormal facies (hypertelorism, low set small ear lobes and micrognatia). Clinical findings of immunodeficiency were present in 4 and hypocalcemia in 3 children, respectively. One child has cleft of soft palate. All of the CHD&#8217 ; s are succesfully corrected surgically.

Izvorni jezik
Engleski

Znanstvena područja
Fizika

POVEZANOST RADA