- 期刊
DiGeorge Syndrome: Clinical Variability in a Family with Submicroscopic Deletion at 22q11.2
Digeorge氏綜合病徵－染色體22q11.2亞顯微缺失導致之臨床表徵多樣化：一個家庭的案例
摘要
DiGeorge氏綜合病徵是由於第三和第四鰓弓和鰓囊的發育不全而形成。它的特徵包括先天性心臓病，胸腺發育不全，副甲狀腺功能不足引致血鈣過少和面相畸形。大部份的安例都與22號染色體中間缺失有關，而這缺失是可從螢光原位雜交所沒出。在家庭與家庭之間或在同一家庭之內，DiGeorge氏綜合病徵的臨床徵狀是高度多樣化的。除了DiGeorge氏綜合病徵外，Velocardiofacial綜合病徵和其它綜合病也可以與同樣的染色體缺失有關。現在，我們報告一個有22號染色體亞顯微缺失的中國家庭，在螢光雜交的檢查下，他們雖然有同樣的染色體缺失，他們的臨床徵狀是截然不同；其中的兩兄弟分別有DiGeorge氏綜合病徵和Velocardiofacial綜合病徵，但他們的母親則完全沒有徵狀。
並列摘要
DiGeorge syndrome is a developmental field defect involving the third and fourth branchial arches and pouches. It is characterised by conotruncal heart defect, thymic hypoplasia/aplasia, hypocalcemia secondary to hypoparathyroidism and dysmorphic facies. Most of the cases are associated with interstitial deletion of chromosome 22 which can be detected by fluorescent in situ hybridisation study. The clinical presentatiop of DiGeorge syndrome is highly variable, in both interfamilial and intrafamilial situations. Apart from DiGeorge syndrome, velocardiofacial syndrome and other conditions are also asssociated with the same interstitial deletion. Here we reported a Chinese family with the same submicroscopic deletion of chromosome 22 as evident by fluorescent in situ hybridisation, but with different clinical presentation; the two brothers had DiGeorge syndrome and velocardiofacial syndrome respectively whereas the mother was asymptomatic.
延伸閱讀
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