作者索引(1993;Volume 9)

Ai Hongbing艾洪滨Ai Mingxian艾明仙An Gang安刚Bai Zhiquan柏志全Bao Yunhua鲍云华Bi Yutian毕玉田Cai Yan蔡淡Cai Yingnian蔡英年Cai Yingyun蔡映云Cao Hong列曹宏宇Cao Yinxiang一曹银祥Cao zhaofeng曹兆丰Cao zhenwu曹祯吾Chang Zhijie常志杰cho Gang陈刚Chen Jisheng陈继生Chen Jiajin陈家津Chen JiaPei陈家佩Chen Jianguo陈建国Chen Jiankang陈健康Chen Jie陈杰Chen Junpao陈俊抛Chen Limin陈丽敏Chen Long陈龙Chen Peixi陈培熹Chen Rendun陈仁博Chen Rongsan陈荣三Chen Shen郎i陈生弟Chen Xiaoling陈晓玲Che…     

遗传性平衡易位t(3; 22) (p21; q13）家系

本文报道一例t(3; 22) (p21; q13）平衡 相互易位的家系。先证者，男性，一岁半，淋巴 细胞及皮肤成纤维细胞G带分析结果：核型均 为46, XY, t(3; 22)(p21；q13）或46, XY,t(3; 22)(3gter” 3p21：：22813” 22gter；2 2 pter” 22gl3::3p21” 3 pter )；先证者母亲（图1）与 外祖母核型均为46, XX, t(3; 22)(p21; q13) 或46, XX, t(3; 22)(3gter、3p21：:22813一 22gter; 22pter～ 22813：:3p21一3pter)。经银 染与G带复合显示技术，先证者及母亲的22der 可见清晰的AgNOR区。先证者的父亲与舅父 G带分析核型正常。在此情况下，有生育正常 婴儿的可能，但必须作产前诊断。     

‘Complete’ trisomy 5p; de novo translocation t(2;5)(q36;p11) with isochromosome 5p

Summary A case of complete trisomy 5p due to a de novo translocation t(2;5)(q36;p11) with an isochromosome 5p is described. Complete trisomy 5p has been reported only once (Brimblecombe et al., 1977). The confusing literature relating to partial trisomy 5p is reviewed. Comparison of our case with the patients reported by Brimblecombe et al. (1977) and by Opitz and Patau (1975) is suggestive for a distinct clinical syndrome if (almost) the complete short arm of chromosome 5 is present in a trisomic state. Unfortunately the clinical findings in the case of Brimblecombe (1966, 1977) are poorly documented. The main features of this syndrome are: macrocephaly, psychomotor retardation, hypotonia, postnatal growth failure, tracheobronchial involvement, mongoloid slant of the eyes, epicanthus, low-set ears, depressed nasal bridge, short first toe, and seizures.     

Partial duplication of the short arm of chromosome 9 (p13→p22) in a child with typical 9p trisomy phenotype

Summary A 3-year-old girl with duplication 9 (p22p13) is reported. The presence of a classical 9p trisomy phenotype in this patient suggests that this region (or part of it) is responsible for the major, typical clinical stigmata of this partial autosomal trisomy syndrome.     

罕见异位核型t(1;3),T(9;19)两例报告

TwoRareCasesofChromosomeTranslocationt(1;3)andt(9;19)WeiRongshangZhangHaiduanWangAiqinHeChunna(LaboratoryofGenetics,NanjingHospitaloftheAirForceofPLANanjing210002)例1男,28岁,结婚2年余,妻27岁,妊娠3次,第1胎孕5个月胎死宫内,第2胎7 月早产后夭折,第3胎5个     

inv(13)(p12;q14)一家系报道

先证者,女,汉族,２４岁,身高１．６１米,体重６０．１公斤。因连续生两胎畸形儿夭折就诊。第一胎为足月顺产,唇裂、腭裂、双足各为６趾,５０天时因呼吸道感染而死亡。第二胎,足月顺产,体征似第一胎,生下两天死亡。对先证者进行外周血染色体检查,计数５０个细胞...     

t(9;13)相互易位家系的染色体分析

染色体的相互易位导致不良孕育原因及自发性流产已得到学者们的共识。作者发现一例ｔ（９;１３）（ｐ２４;ｑ１２）相互易位致产后婴儿死亡的女性,并对其家系进行了染色体检查。该核型经湖南医科大学医学细胞遗传学国家培训中心鉴定,为世界首报核型。１病例及家系分析...