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本文为162例先天畸形和智力障碍儿的染色体观察,发现具有先天多发畸形、智力障碍和肤纹异常者,染色体异常占84.4％,故可以此作为常染色体病的筛选指征。本组病例根据临床可分为4类:1.21三体综合征:53例,其中标准型(47,+21)占56.6％,嵌合型(46/47,+21)占37.7％,易位型(21;D和21;G)占5.7％。2.性分化异常:44例,约半数为假两性畸形,性染色体与性腺相符;真两性畸形5例,核型各为46,XX/46,XY(2例),46,XX(2例)和45,X,-Y,-9,+t(Yq;9p)(1例)。性腺发育不全症5例,核型为45,X/46,XX(3例),45,X/46,XY和45,X/46J XX/47,XXX各1例,均为嵌合型Turner综合征。先天性睾丸发育不全13例,核型多数为46,XY,仅2例为46,XX/46,XY。3.先天多发畸形或伴智力障碍:24例,其中病因不明的14例,患儿非整倍体细胞增加,平均值为11.5％。4.智力障碍儿或伴单发畸形41例,染色体均正常。
This article is 162 cases of congenital malformations and mental retardation in children with chromosomal observation found that with congenital multiple malformations, mental retardation and skin line abnormalities, chromosomal abnormalities accounted for 84.4%, it can be used as an indication for autosomal disease screening. This group of patients according to the clinical can be divided into four categories: 1.21 trisomy syndrome: 53 cases, of which the standard type (47, +21) accounted for 56.6%, chimeric (46/47, +21) accounted for 37.7% Type (21; D and 21; G) accounted for 5.7%. Abnormal sexual differentiation: 44 cases, about half of false bisexual deformity, sex chromosome consistent with the gonads; true hermaphroditism in 5 cases, karyotype each 46, XX / 46, XY (2 cases), 46, ) And 45, X, -Y, -9, + t (Yq; 9p) (1 case). Gonadal dysplasia in 5 cases, Karyotype 45, X / 46, XX (3 cases), 45, X / 46, XY and 45, X / 46J XX / 47, Syndrome. Congenital testicular hypoplasia in 13 cases, the majority of karyotype 46, XY, only 2 cases of 46, XX / 46, XY. 3. Congenital multiple deformities or mental retardation: 24 cases, of which 14 cases of unknown etiology, aneuploidy in children with an average of 11.5%. 41 children with mental retardation or single abnormalities in 41 cases, the chromosomes were normal.