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[1]扶梅妹 黃海龍 薛會麗 安 剛 郭 南 李 英 徐兩蒲.出生缺陷患兒345例細胞遺傳學(xué)分析[J].福建醫(yī)藥雜志,2018,40(06):9-11.
　FU Meimei,HUANG Hailong,XUE Huili,et al.Analysis of 345 cases of children with birth defects in cell genetics[J].FUJIAN MEDICAL JOURNAL,2018,40(06):9-11.
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出生缺陷患兒345例細胞遺傳學(xué)分析()
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《福建醫(yī)藥雜志》[ISSN:1002-2600/CN:35-1071/R]

卷:
40
期數(shù):
2018年06期
頁碼:
9-11
欄目:
臨床研究
出版日期:
2018-11-29

文章信息/Info

Title:
Analysis of 345 cases of children with birth defects in cell genetics
文章編號:
1002-2600(2018)06-0009-04
作者:
扶梅妹 黃海龍 薛會麗 安 剛 郭 南 李 英 徐兩蒲
福建省婦幼保健院產(chǎn)前診斷中心 福建省產(chǎn)前診斷與出生缺陷重點實驗室(福州350001)
Author(s):
FU Meimei; HUANG Hailong; XUE Huili; AN Gang; GUO Nan; LI Ying; XU Liangpu.
Center of Prenatal Diagnosis,Fujian Provincial Maternity and Childrens Hospital, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defects, Fuzhou,Fujian350001,China
關(guān)鍵詞:
細胞遺傳學(xué);  異常核型;  21-三體綜合征;  染色體基因芯片分析
Keywords:
cytogenetics;  abnormal karyotype;  21 trisomy syndrome;  chromosomal microarray analysis
分類號:
R722.11
文獻標志碼:
B
摘要:
目的 分析出生缺陷患兒的染色體核型分布特點和臨床表現(xiàn)。方法 選取我院就診的345例出生缺陷患兒,行外周血染色體核型分析,部分標本進行了SNP-array基因芯片分析,以明確診斷。結(jié)果 345例患兒中臨床表現(xiàn)居前三位分別是特殊面容、尿道下裂、智力低下。345患兒中共檢出116例染色體異常核型,檢出率33.6%。其中常染色體異常105例,占90.5%(105/116); 性染色體異常9例,占7.8%(9/116)。常染色體異常中21-三體綜合征85例,占總異常的73.3%(85/116)。結(jié)論 21-三體綜合征在本組病例中發(fā)病率最高,應(yīng)對有染色體異常兒生育史的父母再生育提供指導(dǎo)。
Abstract:
Objective To analyse the characteristics of chromosome karyotype distribution and clinical manifestations in children with birth defects. Methods The chromosome karyotypes of 345 children with birth defects in our hospital were analyzed. Some samples were analyzed by SNP-arry gene chip in order to make a definite diagnosis. Results The top three clinical manifestations of 345 patients were special face, hypospadias and mental retardation. A total of 116 cases of abnormal karyotype were detected in 345 children, the detection rate was 33.6%. Among them, 105 cases(90.5%,105/116)had autosomal abnormalities and 9 cases(7.8%,9/116)which had sex chromosomal abnormalities. A total of 85 cases had chromosome abnormalities of 21 trisomy, accounting for 73.3% of the total abnormal(85/116). Conclusion 21 trisomy syndrome has the highest incidence in this group. We should provide guidance for parents who have chromosomal abnormalities in childbearing history.

參考文獻/References:

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備注/Memo

備注/Memo:
基金項目:福建省自然科學(xué)基金資助項目(2017J01238)
更新日期/Last Update: 2018-11-29