临床儿科杂志
臨床兒科雜誌
림상인과잡지
2014年
6期
579-582
,共4页
Phelan-McDermid综合征%染色体%微阵列比较基因组杂交芯片技术
Phelan-McDermid綜閤徵%染色體%微陣列比較基因組雜交芯片技術
Phelan-McDermid종합정%염색체%미진렬비교기인조잡교심편기술
Phelan-McDermid syndrome%chromosome%array CGH
目的：探讨Phelan-McDermid综合征的临床表现及微阵列比较基因组杂交芯片技术（array CGH，aCGH）结果。方法回顾性分析1例Phelan-McDermid综合征患儿的临床资料；采用常规G显带分析染色体核型，运用aCGH检测全染色体微小改变。结果患儿染色体核型示正常女性核型，未发现染色体数目及结构异常；aCGH分析发现Chr22q13.2-qter缺失，并排除其他染色体微改变；确诊为Phelan-McDermid综合征。结论通过典型的临床表现和染色体微改变相关实验室检查可确诊Phelan-McDermid综合征；aCGH技术对于筛查该病并排除其他染色体微改变最有意义。
目的：探討Phelan-McDermid綜閤徵的臨床錶現及微陣列比較基因組雜交芯片技術（array CGH，aCGH）結果。方法迴顧性分析1例Phelan-McDermid綜閤徵患兒的臨床資料；採用常規G顯帶分析染色體覈型，運用aCGH檢測全染色體微小改變。結果患兒染色體覈型示正常女性覈型，未髮現染色體數目及結構異常；aCGH分析髮現Chr22q13.2-qter缺失，併排除其他染色體微改變；確診為Phelan-McDermid綜閤徵。結論通過典型的臨床錶現和染色體微改變相關實驗室檢查可確診Phelan-McDermid綜閤徵；aCGH技術對于篩查該病併排除其他染色體微改變最有意義。
목적：탐토Phelan-McDermid종합정적림상표현급미진렬비교기인조잡교심편기술（array CGH，aCGH）결과。방법회고성분석1례Phelan-McDermid종합정환인적림상자료；채용상규G현대분석염색체핵형，운용aCGH검측전염색체미소개변。결과환인염색체핵형시정상녀성핵형，미발현염색체수목급결구이상；aCGH분석발현Chr22q13.2-qter결실，병배제기타염색체미개변；학진위Phelan-McDermid종합정。결론통과전형적림상표현화염색체미개변상관실험실검사가학진Phelan-McDermid종합정；aCGH기술대우사사해병병배제기타염색체미개변최유의의。
Objective To analyze the clinical features and results of array-comparative genomic hybridization (array CGH, aCGH) in a Chinese girl with Phelan-McDermid syndrome. Methods The clinical symptoms of a child with Phelan-Mc-Dermid syndrome were retrospectively analyzed. Routine G-banding was performed to analyze the karyotype, and the aCGH was used to analyze subchromosomal abnormalities. Results The routine karyotype analysis showed a normal female karyotype without abnomalities in chromosome number and structure. aCGH analysis finely mapped the deletion of Chr22q13.2-qter. Phel-an-McDermid syndrome was diagnosed for this case. Conclusions Phelan-McDermid syndrome can be diagnosed by the typi-cal and detailed clinical features in combination with the laboratory examinations of subchromosomal abnormalities. aCGH is one of the most valuable methods to analyze subchromosomal abnormalities and to diagnose Phelan-McDermid syndrome.
