DiGeorge Syndrome with Microdeletion of Chromosome 22q11.2: Report of One Case

DiGeorge症候群(DGS)是一種先天性異常，起源於第三及第四對咽囊發育缺陷，主要表徵有胸腺不發育或發育不全，副甲狀腺不發育或發育不全，心髒異常，以及顔面異常。我們發表這個病例，具有胸腺不發育，低血鈣，顔面異常(兩眼距過寬，低位耳，軟顎裂，魚狀嘴，和小下巴)，以及心室中膈缺損(瓣膜週邊型)。T細胞免疫功能，包括T細胞次群比例及T淋巴球增殖反應均在正常範圍。分子研究籍由基因分析證實在第二十二對染色體長臂11.2位置有微小缺損，但是由G-分帶染色的細胞遺傳學分析染色體是正常的。就我們所知，大約有百分之九十的DGS病人有染色體異常，大部分是第二十二對染色體22q11.2的單染色體缺損。過去，大部分病例是由細胞遺傳學分析或螢光染色法證實。此病人爲國內的一個病例，由基因分析偵測有染色體22q11.2微小缺損的DGS，特此提出報告。

關鍵字

DiGeorge症候群；染色體22q11.2微小基因缺損；基因分析

並列摘要

DiGeorge syndrome (DGS) is a congenital anomaly involving developmental defects of the third and fourth pharyngeal pouches. Thymic aplasia or hypoplasia, parathyroid aplasia or hypoplasia, cardiac malformations, and dysmorphicfacies are characteristic features. We present a case which had thymic aplasia, hypocalcemia, facial dysmorphism (hypertelorism, low set ears, cleft of soft palate, fish-like mouth and micro gnathia) and congenital heart disease (ventricular septal defect, perimembranous type). The T-cell immunologic functions as a percentage of T-cell and phytohemagglutinin stimulation test were within normal range matched with age. Molecular study showed microdeletion of chromosome 22q11.2 by genotype analysis, but chromosome study of high-resolution cytogenetic analysis by G-banding technique was normal. To our knowledge, about 90% of DiGeorge syndrome patients show chromosome abnormalities, most involving chromosome 22 (monosomy of 22q11.2). In the past, most cases were proven by high-resolution cytogenetic analysis or fluorescence in situ hybridization (FISH). We report a case of DGS in Taiwan with microdeletion of chromosome 22q11.2 detected by genotype analysis.

並列關鍵字

DiGeorge syndrome ； microdeletion of chromosome 22q11.2 ； genotype analysis

國際替代計量

DiGeorge Syndrome with Microdeletion of Chromosome 22q11.2: Report of One Case

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