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Deletion of chromosome 22q11.2, which causes DiGeorge syndrome, is one of the most frequently diagnosed microdeletion syndromes in the human. It is characterised by a wide variety of symptoms. The main symptoms consist of congenital heart diseases, particularly conotruncal malformations, characteristic facial dysmorphism, palatal abnormalities, an immune deficiency and hypocalcemia.We present phenotypical...
Zespół Pradera-Williego (Prader-Willi Syndrome – PWS) jest zespołem dysmorficznym o złożonym podłożu genetycznym i zróżnicowanym obrazie klinicznym. Zdecydowana większość przypadków PWS powstaje de novo jako wynik delecji fragmentu ramienia krótkiego chromosomu 15 pochodzącego od ojca (75% przypadków). Zakres objawów klinicznych w PWS jest szeroki. Opisuje się głównie cechy dysmorficzne twarzy, takie...
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