[对精神病院257名智力缺陷患者的细胞遗传学研究]
[Cytogenetic study of 257 mentally deficient patients in psychiatric hospitals].
作者信息
Bourgeois M, Bénézech M, Tournier-Zerbid N, Constant-Boy M, Benazet-Rissou J
出版信息
Ann Med Psychol (Paris). 1975 Nov;2(4):756-82.
Cytogenetic survey of 257 mentally retarded individuals. A cytogenetic inquiry was undertaken among 257 patients with mental retardation of two psychiatric hospitals. 25 patients show chromosomes anomalies (10%). We found: --18 trisomy 21 (Down's syndrome); --3 sexual chromosome anomalies: 47, XYY syndrome; 47, XYY/46, XY mosaïcism; 47, XXY, or Klinefelter syndrom; --1 partial delection of long arm of chromosome number 18 (46, XX, 18 q--); --3 translocations; 45, XX, t (1, 13) (p 36, q 11); 46, XX, t (5 p--, 18 p+) (p 12, p 11); 46, XY, t (9, 19) (q 21, p 18). We also found 9 large Y chromosomes (46, XY q+), 8 cases of variant chromosomes, 1 case with chromosomes associations..., we report a case of masculine Turner phenotype or Noonan syndrom.
257名智力迟钝个体的细胞遗传学调查。对两家精神病医院的257名智力迟钝患者进行了细胞遗传学调查。25名患者显示染色体异常（10%）。我们发现：——18例21三体（唐氏综合征）；——3例性染色体异常：47,XYY综合征；47,XYY/46,XY嵌合体；47,XXY或克氏综合征；——1例18号染色体长臂部分缺失（46,XX,18q--）；——3例易位：45,XX,t(1,13)(p36,q11)；46,XX,t(5p--,18p+)(p12,p11)；46,XY,t(9,19)(q21,p18)。我们还发现9条大Y染色体（46,XYq+），8例染色体变异，1例染色体联合……，我们报告1例男性特纳表型或努南综合征病例。
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