Table of Contents

HK J Paediatr (New Series)
Vol 17. No. 1, 2012

HK J Paediatr (New Series) 2012;17;3-11

Original Article

A Cytogenetic Survey of 8584 Children Referred for Suspected Congenital Disorders: The Experience of a Children's Hospital in China from 1996 to 2010

XM Wang, XB Zheng, HS Jin, HJ Yu, L Liang, Q Shu, ZY Zhao, LZ Du


Objectives: We evaluated the type and incidence of different chromosomal abnormalities among paediatric patients presented with congenital abnormalities in a paediatric hospital over the past 15 years. Material and methods: Peripheral blood lymphocytes were obtained from 8584 paediatric patients with suspected chromosomal aberrations in the Children's Hospital of Zhejiang University School from 1996 to 2010. Their age were between 0 and 18 years. Cytogenetic analysis was performed by G-banding technique. The cases were grouped according to the reasons of referral for cytogenetic analysis. The frequency of various abnormal karyotypes was analysed. Results: The main indications for cytogenetic analysis were congenital genitourinary defect, which accounted for 39.6% (3402/8584). The referrals of congenital genitourinary defects group increased while other groups decreased during 2006-2010 compared to 1996-2000. Abnormal karyotypes were found in 24.4% (2094/8584) and 77.0% (1612/2094) had autosomal abnormalities. Among them, trisomy 21 was the most frequent one. The remaining 23.0% (482/2094) were sex chromosome abnormalities, 199 cases were structural abnormalities and 283 cases were numerical abnormalities. The ratio of autosomal abnormalities to sex chromosome abnormalities showed a decrease trend. Turner syndrome accounted for 12.7% (265/2094) of abnormal karyotypes. Eighty nine cases of XY female (46,XY complete gonadal dysgenesis) and 58 cases of XX male (46,XX testicular disorder of sexual development) were diagnosed, which consisted of 7.0% (147/2094) in all chromosomal anomalies. Conclusions: The incidence and distribution of cytogenetic abnormalities by karyotype were reviewed. The high rate of chromosomal abnormalities (24.4%) found in our referred population demonstrates the importance of cytogenetic evaluation in patients who are clinically abnormal. The main clinical indications for genetic analysis were congenital genitourinary defects, the ratio between sex chromosome abnormality and autosomal abnormality elevated with the increase of cases referral for congenital genitourinary defects. This is due to referral bias of a paediatric medical center with developed paediatric urology subspecialty. Our data may help in providing some correlation data for genetic counselling on this aspect.

目的:本研究是一所兒童醫院的報告,評價過去15年裏患有先天異常染色體患兒的類型和發病情况。材料和方法:1996-2010年間,對8584例年齡0-18歲,懷疑染色體異常的兒童,取外周血淋巴細胞進行細胞遺傳學分析。用G顯帶技術進行細胞遺傳學分析。根據進行細胞遺傳學分析的原因進行分組,探討異常核型頻率。結果:進行細胞遺傳學分析的主要原因是泌尿生殖道缺陷,佔39.6%(3402/8584)。1996-2000年間與2006-2010年間比較,泌尿生殖道缺陷病例人數上升,其他病例人數下降。異常染色體佔24.4%(2094/8584)。77.0%(1612/2094)累及常染色體,21三體綜合徵最為常見。其他23.0%(482/2094)是性染色體異常,199例結構異常,283例數目異常。常染色體與性染色體比例呈下降趨勢。Turner綜合徵佔異常核型的12.7%(265/2094),89例為XY女性(46,XY 完全性腺發育不良),58例為XX男性(46,XX睾丸性發育異常),佔所有染色體異常的7.0% (147/2094)。結論:通過核型分析描述細胞遺傳異常的發病和分佈情况。在我們當中,染色體異常率高達24.4%,證明細胞遺傳分析對臨床異常患兒的重要性。遺傳分析的最主要臨床原因是先天性泌尿生殖道缺陷。由於先天泌尿生殖道缺陷病例增多,性染色體與常染色體異常比例增加。這是以兒童醫學中心為基礎的,以兒童為研究對象的,最大的細胞遺傳檢測的隊列研究之一。我們希望該研究有助於兒童染色體異常的診斷和遺傳諮詢。

Keyword : Abnormal karyotypes; Children; Cytogenetic testing; Disorders of sex development; Monosomy



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