七种药用植物的染色体研究

对山东７种药用植物的染色体进行了研究。结果表明：田旋花（ＣｏｎｖｏｌｖｕｌｕｓａｒｖｅｎｓｉｓＬ）的染色体数目为２ｎ＝７８;蜜柑草（ＰｈｙｌａｎｔｈｕｓｍａｔｓｕｍｕｒａｅＨａｖａｔａ）的染色体数目为ｎ＝８８;挂红灯（ＰｈｙｓａｌｉｓａｌｋｅｋｅｎｇｉＬｖａｒｆｒａｎｃｈｅｔｉ（Ｍａｓｔ）Ｍａｋｉｎｏ）的染色体数目为２ｎ＝２４,核型公式为Ｋ（２ｎ）＝２４＝２ｍ＋１８ｓｍ＋２ｓｔ＋２ｓｔ（ｓａｔ）,核型“２Ａ”型;无剌曼陀罗（ＤａｔｕｒａｓｔｒａｍｏｎｉｕｍＬｖａｒｉｎｅｒｍｉｓ（Ｊａｃｑ）ＳｃｈｉｎｚｅｔＴｈｅｌ）的染色体数目为２ｎ＝２４,核型公式为Ｋ（２ｎ）＝２４＝２０ｍ＋４ｓｍ,核型“１Ｂ”型;决明（ＣａｓｉａｔｏｒａＬ）的染色体数目为２ｎ＝２６,核型公式为Ｋ（２ｎ）＝２６＝２４ｍ＋２ｓｍ,核型“１Ａ”型;荔枝草（ＳａｌｖｉａｐｌｅｂｅｉａＲＢｒ）的染色体数目为２ｎ＝１６,核型公式为Ｋ（２ｎ）＝１６＝６ｍ＋１０ｓｍ,核型“２Ａ”型;车前（ＰｌａｎｔａｇｏａｓｉａｔｉｃａＬ）的染色体数目为２ｎ＝３６,核型公式为Ｋ（２ｎ）＝３６＝３２ｍ＋４ｓｍ,核型“１Ａ”型。     

落叶松属的核型及系统位置的研究

本文分析了我国特产树种红杉Ｌａｒｉｘ ｐｏｔａｎｉｎｉｉ的核型,Ｋ（２ｎ）＝２４＝１２ｍ＋８ｓｍ＋４ｓｔ,属２Ａ类型,染色体相对长度组成为２ｎ＝２４＝４Ｌ＋８Ｍ２＋８Ｍ１＋４Ｓ。落叶松属植物（１０种）的核型由６对较长的中部着丝粒染色体和６对较短的,臂比大于２的近中或近端着丝粒染色体构成,这是较为进化的核型,其中红杉组Ｓｅｃｔ．Ｍｕｌｔｉｓｅｒａｌｅｓ则似有比落叶公组Ｓｅｃｔ．Ｌａｒｉｘ更进化的趋势     

吉林省产5种百合的核型研究

报道了吉林省产５种百合科植物的染色体数目和核型：①毛百合Ｌｉｌｉｕｍ ｄａｕｒｉｃｕｍ Ｋｅｒ．－Ｇｅｗ１．２ｎ＝２４＝２ｍ（２ＳＡＴ）＋２ｓｍ（２ＳＡＴ）＋８ｓｔ（２ＳＡＴ）＋１２ｔ（２ＳＡＴ）;②有斑百合Ｌ．ｃｏｎｃｏｌｏｒ Ｓａｌｉｓｂ．ｖａｒ．ｂｕｓｃｈｉａｎｕｍ（Ｌｏｄｄ．）Ｂａｋｅｒ ２ｎ＝２４＝２ｍ（２ＳＡＴ）＋４ｓｍ（４ＳＡＴ）＋６ｓｔ（２ＳＡＴ）＋１２ｔ;③兰州百合Ｌ．ｄａｖｉｄ     

山东10种植物的核型分析

对山东１０ 种植物进行了核型分析。茴茴蒜（ Ｒａｎｕｎｃｕｌｕｓｃｈｉｎｅｎｓｉｓ Ｂｇｅ－） 染色体数目２ｎ ＝１６ , 核型公式Ｋ（２ｎ） ＝ ２ｘ ＝ １６ ＝ ２ Ｍ ＋ ２ｍ ＋ ２ｓｍ ＋ １０ｓｔ, “３Ａ”类型; 五脉地椒（ Ｔｈｙｍｕｓｑｕｉｎｑｕｅｃｏｓｔａｔｕｓ Ｃｅｌａｋ－） 染色体数目２ｎ＝ ２６ , 核型公式Ｋ （２ｎ） ＝ ２ｘ＝ ２６ ＝ ８ Ｍ ＋ １８ｍ , “１Ａ”类型; 蛇床（ Ｃｎｉｄｉｕｍ ｍｏｎｎｉｅｒｉ（Ｌ－） Ｃｕｓｓ－） 染色体数目２ｎ＝ ２０ , 核型公式Ｋ （２ｎ） ＝ ２ｘ＝ ２０ ＝ ２Ｍ＋ １６ｍ ＋ ２ｓｍ , “２Ｂ”类型; 波斯菊（ Ｃｏｓｍｏｓ ｂｉｐｉｎｎａｔｕｓ Ｃａｖ－） 染色体数目２ｎ ＝ ２４ , 核型公式Ｋ（２ｎ） ＝ ２ｘ ＝ ２４ ＝ １６ｍ ＋ ２ｍ （ｓａｔ） ＋ ６ｓｍ , “２Ａ”类型; 白车轴草（ Ｔｒｉｆｏｌｉｕｍ ｒｅｐｅｎｓ Ｌ－） 染色体数目２ｎ＝ ３２ , 核型公式Ｋ （２ｎ） ＝ ４ｘ ＝ ３２ ＝ ３２ｍ , “１Ａ”类型; 铁苋菜（ Ａｃａｌｙｐｈａ ａｕｓｔｒａｌｉｓ Ｌ－）染色体数目２ｎ ＝ ３２ , 核型公式Ｋ （２ｎ） ＝ ２ｘ＝ ３２ ＝ ３２ｍ , “１Ｂ”类型; 地构叶（ Ｓｐｅｒａｎｓｋｉａ ｔ?     

安徽黄精属的细胞分类学研究

本文首次报道黄精属ＰｏｌｙｇｏｎａｔｕｍＭｉｌｌ我国三种特有植物的染色体数目和核型,结果如下：安徽黄精Ｐ．ａｎｈｕｉｅｎｓｅ发现两个细胞型：（１）２ｎ＝２４＝４ｍ＋６ｓｍ＋１４ｓｔ;（２）２ｎ＝２０＝４ｍ十６ｓｍ＋１０ｓｔ;　　黄精Ｐ．ｌａｎｇｙａｅｎｓｙ２ｎ＝１８＝６ｍ＋８ｓｍ＋４ｔ;距药黄精Ｐ．ｆｒａｎｃｈｅｔｉｉ有三个细胞型：（１）２ｎ＝２２＝８ｍ＋８ｓｍ（２ｓｃ）＋６ｓｔ;（２）２ｎ＝２０＝２ｍ＋１４ｓｍ＋４ｓｔ;（３）２ｎ＝１８＝４ｍ＋８ｓｍ＋４ｓｔ＋２Ｔ,全部属３Ｂ核型。黄精属植物安徽共有１０种,本文对９种黄精的染色体数目、核型进行了比较研究,发现它们可划分成三个类群,与中国植物志（第十五卷）的形态分类基本相符。     

扬子毛茛和石龙芮的核型研究

报道了浙江省常见的２种毛茛属植物－扬子毛茛和石龙芮的染色体资料,扬子毛茛体细胞染色体数目２ｎ＝３２,核型组成;Ｋ（２ｎ）＝４ｘ＝３２＝１６ｍ＋８ｓｍ＋８ｓｔ。石龙芮体细胞染色体数目２ｎ＝３２,核型组成;Ｋ（２ｎ）＝４ｘ＝３２＝８ｍ＋２４ｓｍ。     

应用G显带染色体荧光原位杂交（FISH）技术研究复杂的染色体易位

建立常规Ｇ显带染色体标本的荧光原位杂交（ＦＩＳＨ）技术,用于分析患者复杂的染色体易位。原位杂交前,用甲醛固定Ｇ显带标本,是获得良好显带和荧光杂交效果的关键步骤。仅用常规细胞遗传学方法分析,显示一例习惯性流产患者的核型为４６,ＸＸ,ｔ（１;５;１２）（１ｐｔｅｒ→１ｑ２５：：１２ｑ２４→１２ｑｔｅｒ;５ｑｔｅｒ→５ｐ１１：：１ｑ２５→１ｑｔｅｒ,１２ｐｔｅｒ→１２ｑ２４：．５ｐ１１→５ｐｔｅｒ）,而采用本方法确定患者的核型实际为４６,ＸＸ,ｔ（１;５,１２）（１ｐｔｅｒ→１ｑ２３：：１２ｑ２２→１２ｑｔｅｒ,５ｑｔｅｒ→５ｐ１１：：１ｑ２５→１ｑｔｅｒ;１２ｐｔｅｒ→１２ｑ２２：：１ｑ２３→１ｑ２５：５ｐ１１→５ｐｔｅｒ）。结果表明,新建立的Ｇ显带染色体荧光原位杂交（ＦＩＳＨ）技术能更有效地检测患者复杂的染色体易位。     

云南8种树蛙的染色体组型比较研究

本文报道了云南８种树桂的染色体组型,并对目前所已知的树蛙种类的染色体组型进行了比较。锯腿小树蛙Ｐｈｉｌａｕｔｕｓｃａｖｉｒｏｓｔｒｉｓ（Ｇｕｅｎｔｈｅｒ）的２ｎ＝２６,５对大染色体和８对小染色体,９Ｍ＋４ＳＭ,ＮＦ＝５２,Ｎｏ．７长臂近着丝粒处和Ｎｏ．８短臂端部备有一个次缢痕;白颊小树蛙Ｐｈｉ．ｐａｌｐｅｂｒａｌｉｓＳｍｉｔｈ的２ｎ＝２６,５对人染色体和８对小染色体,８Ｍ＋５ＳＭ,ＮＦ＝５２,Ｎｏ．６短臂近着丝粒处有一个次缢痕。白颌大树蛙Ｒｈａ．ｍａｘｉｍｕｓＧｕｅｎｔｈｅｒ的２ｎ＝２６,５对大染色体和８对小染色体,９Ｍ＋４ＳＭ,ＮＦ＝５２;棕褶树蛙Ｒｈａ．ｆｅａｅＢｏｕｌｅｎｇｅｒ的２ｎ＝２６,５对大染色体和８对小染色体,９Ｍ＋４ＳＭ,ＮＦ＝５２;黑蹼树蛙Ｒｈａ．ｒｅｉｎｗａｒｄｔｉｉ（Ｂｏｉｅ）的２ｎ＝２６,５对大染色体和８对小染色体,９Ｍ＋４ＳＭ,ＮＦ＝５２,Ｍｏ．１短臂近着丝粒处有一个次缢痕;红蹼树蛙Ｒｈａ．ｒｈｏｄｏｐｕｓＬｉｕｅｔＨｕ的２ｎ＝２６,５对大染色体,１对中染色体和７对小染色体,９Ｍ＋４ＳＭ,ＮＦ＝５２;斑腿泛树蛙Ｐｏｌｙｐｅｄａｔｅｓｍｅｇａｃｅｐｈａｌｕｓ的２ｎ＝２６,５对大染色体     

贻贝(Mytilus edulis)核型及染色体带型分析

本文对贻贝染色体进行了核型分析,其结果为：２ｎ＝２８,１２ｍ＋１０ｓｍ＋６ｓｔ,ＮＦ＝５０,ＴＣＬ＝ １０３．９０μｍ,ＣＬ：２．７３５－４．７７４μｍ。第１、２、４、８、１１、１２对为中部着丝粒染色体（ｍ）;第６、９、１０、１３、１４对 为亚中部着丝粒染色体（ｓｍ）;第 ３、５、７对为亚端部着丝粒染色体（ｓｔ）。对贻贝染色体的Ｇ带、Ｃ带、银 染带进行了分析。银染结果表明,贻贝细胞中有四个银染核仁组织区（Ａｇ－ＮＯＲｓ）,分布在第 ３、５对染 色体长臂末端。     

九种二变种山茶属植物的核型报道

本文报道了９种２变山茶属植物的核型．结果如下：Ｃａｍｅｌｉａｈｅｎｒｙａｎａ：２ｎ＝２ｘ＝３０＝２１ｍ＋８ｓｍ＋１ｓｔ;Ｃ．ｆｕｒｆｕｒａｃｅａ：２ｎ＝２ｘ＝３０＝２０ｍ＋１０ｓｍ;Ｃ．ｗａｒｄｉ：２ｎ＝２ｘ＝３０＝１８ｍ＋１１ｍ＋１ｓｔ;Ｃ．ａｎｌｕｎｇｅｎｓｉｓ：２ｎ＝２ｘ＝３０＝１９ｍ＋９ｓｍ＋２ｓｔ;Ｃ．ａｎｌｕｎｇｅｎｓｉｓｖａｒ．ａｃｕｔｉｐｅｒｕｌａｔａ：２ｎ＝２ｘ＝３０＝１９ｍ＋９ｓｍ＋２ｓｔ;Ｃ．ｐｙｘｉｄｉａｃｅａ：２ｎ＝２ｘ＝３０＝２０ｍ＋８ｓｍ＋２ｓｔ;Ｃ．ｐｙｘｉｄｉａｃｅａｖａｒ．ｒｕｂｉｔｕｂｅｒｃｕｌａｔａ：２ｎ＝２ｘ＝３０＝２１ｍ＋８ｓｍ＋１ｓｔ;Ｃ．ｂｒｅｖｉｓｔｙｌａ：２ｎ＝２ｘ＝３０＝１８ｍ＋１０ｓｍ＋２ｓｔ;Ｃ．ｌｅｐｔｏｐｈｙｌａ：２ｎ＝２ｘ＝３０＝２４ｍ（１ｓａｔ）＋４ｓｍ（１ｓａｔ）＋２ｓｔ;Ｃ．ｙｕｎｎａｎｅｎｓｉｓ：２ｎ＝２ｘ＝３０＝１８ｍ＋１０ｓｍ＋２ｓｔ;Ｃ．ｐｉｔａｒｄｉ：２ｎ＝２ｘ＝３０＝１８ｍ＋１２ｓｍ．其中,前７种２变种的核型为首次报道,比较前人的有关研究可以看出上述核型在种间较相似,以组为单位进行比较比种间比较具有更大的意义。     

M-FISH applications in clinical genetics

Until recently, presence of de novo marker or derivative chromosomes was quite problematic for genetic counseling especially in prenatal diagnosis, because characterization of marker and derivative chromosomes by conventional cytogenetic techniques was nearly impossible. However, recently developed molecular cytogenetic technique named Multicolor Fluorescence in Situ Hybridization (M-FISH) which paints all human chromosomes in 24 different colors allows us to characterize marker and derivative chromosomes in a single hybridization. In this study, we applied M-FISH to determine the origin of 3 marker and 3 derivative chromosomes. Marker chromosomes were found to originate from chromosome 15 in two postnatal and one prenatal case. Of these, one of the postnatal cases displayed clinical findings of inv dup (115) syndrome and the other of infertility, and the prenatal case went through amniocentesis due to the triple test results. Karyotypes of the patients with derivative chromosomes were designated as 46,XY,der (21)t(1;21)(q32;p11), 46,XX,der(8)t(8;9)(p23;p22) and 46,XX,der(18)t(18;20)(q32;p11.2) according to cytogenetic and M-FISH studies. All of the M-FISH results were confirmed with locus specific or whole chromosome painting probes. The case with der (8)t(8;9) had trisomy 9(p22-pter) and monosomy 8(p23-pter) due to this derivative chromosome. The case with der(18)t(18;20) had trisomy 20(p11.2-pter) and monosomy 18(q32-qter). Parental origins of the derivative chromosomes were analyzed using microsatellite markers located in the trisomic chromosomal segments. Patients' clinical findings were compared with the literature.     

Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations

Summary In five healthy family members of three generations a reciprocal translocation, t(6;12)(q27;q21), combined with an inverted insertion inv ins (7;8)(p14;q22q13), has been demonstrated. Neither offspring with unbalanced karyotypes nor descendants with isolated translocations or insertions were observed. Five simultaneously occurring chromosomal breaks are considered to be the reason for the new rearrangement.     

Partial trisomy of the distal part of 10q: a report of two Egyptian cases

Partial trisomy of the distal third of the long arm of chromosome 10 is a well defined but rare syndrome. Most cases result from an unbalanced translocation. Growth retardation, developmental delay and characteristic dysmorphic features are well described in the syndrome. This report includes 2 Egyptian cases with partial 10q trisomy involving different breakpoints. Cases were subjected to full clinical examination and detailed cytogenetic analysis using conventional and FISH studies. Results showed that the karyotype of case 1 was 46,XX,der(7)t(7;10)(p22;q23).ish(wcp7+;wcpl0+) and the karyotype of case 2 was 46,XX,der(7)t(7;10)(p22;q25).ish(wcp7+;wcp 10+). The chromosomal abnormalities in case 1 resulted from a paternal balanced translocation while case 2 resulted from a maternal balanced translocation involving chromosomes 10 and 7 in both cases. The probands' phenotypes were correlated to the breakpoints and compared to previously reported cases with partial trisomy 10q. Both cases had the well characterized phenotype of the distal trisomy of 10q in the form of mental retardation, microcephaly, characteristic dysmorphic facies and limb anomalies as trisomy in both cases involved the 10q25-->qter region. However, case 1 with 10q23-->qter duplication showed more severe clinical manifestations than case 2 with less extensive 10q25-->qter trisomy. These included severe failure to thrive, cardiac involvement and death from respiratory and heart failure. This study confirmed that unbalanced chromosome regions of the long arm of chromosome 10 play an important role in developmental malformations and that a more severe form is associated with involvement of 10q23. It also emphasizes the importance of increasing public awareness regarding these chromosomal rearrangements and the importance of genetic counseling and prenatal diagnosis to avoid recurrences and associated family stress. This was clearly demonstrated in the second family in this study as the couple refused any follow up or further investigations due to religious beliefs despite their social and educational level.     

Interchromosomal insertions

In five families with questionable chromosome rearrangements, we identified an interchromosomal insertion by fluorescent in situ hybridization (FISH). In case 1 with a dir ins (5;11)(p14;q14q24) in three generations, the mentally retarded and microcephalic proband showed a 5p14-->pter deletion. In case 2, a duplication (13)(q21.31--> q31.2) combined with a deletion (11)(q14-->q22) segregated from a reciprocal ins(11;13)(q14q122)(q21.32q31.2), causing a mixed phenotype with psychomotor retardation, caput quadratum, choanal atresia, and pes equinovarus. In case 3, a dir ins (18;5)(q21.3;p13.1p14) was associated with spontaneous abortions, in case 4, the proband with mental retardation, microcephaly, and a heart defect showed a pure trisomy of (12)(q13-->q15), which had segregated from a carrier of an ins (18;12)(p11.3;q13q15). In case 5, a duplication of (10)(q26.3-->q25.2) segregated from an inv ins(5;10)(q15;q26.3q25.2), which was passed on directly from a mother to her son,with mental retardation. In all families the elucidation of the insertional translocation (IT) considerably increased the associated genetic risks of carriers. For the review, we collected data from 81 articles on 87 IT probands on ascertainment, origin, familial transmittance, progeny, and genetic risks of IT carriers. We also discussed the recombinant chromosomes and complex rearrangements associated with ITs, and listed chromosome regions occurring solely as deletions, or solely as duplications, or as both to facilitate genotype/phenotype correlations. We conclude that ITs are rare chromosomal rearrangements with an 1:80,000 incidence, of which nearly 80% were referred because of congenital abnormalities and mental retardation. A maternal origin was seen in 59.5%, a paternal origin in 26.6%, and 13.9% were de novo. No notable difference in fertility between male and female IT carriers was noticed. Bias of ascertainment was excluded in 15 familial cases and led to an estimate of the genetic risks for IT carriers of 32.0-36.0%. The mean size of the inserted regions occurring solely as duplications (n=39) measures 0.96% of the haploid autosomal length (HAL), and of regions solely occurring as deletions (n=14) 0.47% HAL. In the families where both aneusomies occurred, the size of the insertions ranged between 0.22 and 1.21% HAL. Overall, the findings fit with the general idea that a surplus of genetic material is tolerated more easily than a deficiency.     

CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder

Gilles de la Tourette syndrome (GTS) is a sporadic or inherited complex neuropsychiatric disorder characterized by involuntary motor and vocal tics. There is comorbidity with disorders like obsessive compulsive disorder and attention deficit hyperactivity disorder. Until now linkage analysis has pointed to a number of chromosomal locations, but has failed to identify a clear candidate gene(s). We have investigated a GTS family with a complex chromosomal insertion/translocation involving chromosomes 2 and 7. The affected father [46,XY,inv(2) (p23q22),ins(7;2) (q35-q36;p21p23)] and two affected children [46,XX,der(7)ins(7;2)(q35-q36;p21p23) and 46,XY,der(7)ins(7;2)(q35-q36;p213p23)] share a chromosome 2p21-p23 insertion on chromosome 7q35-q36, thereby interrupting the contactin-associated protein 2 gene (CNTNAP2). This gene encodes a membrane protein located in a specific compartment at the nodes of Ranvier of axons. We hypothesize that disruption or decreased expression of CNTNAP2 could lead to a disturbed distribution of the K(+) channels in the nervous system, thereby influencing conduction and/or repolarization of action potentials, causing unwanted actions or movements in GTS.     

Familial whole-arm translocations (1;19), (9;13), and (12;21): a review of 101 constitutional exchanges

We report here on 3 familial whole-arm translocations (WATs), namely the 8th instance of t(1;19)(p10;q10) and 2 novel exchanges: t(9;13)(p10;q10) and t(12;21)(p10;q10). The exchanges (1;19) and (12;21) were ascertained through a balanced carrier, whereas the t(9;13) was first diagnosed in a boy with a trisomy 9p syndrome and der(9p13p). Results of FISH analyses with the appropriate α-satellite probes were as follows. Family 1, t(1;19): the D1Z5 probe gave a strong signal on both the normal chromosome 1 and the der(1q19p) as well as a weak signal on the der(1p19q). Family 2, t(9;13): the centromere-9 alphoid and D13Z1/D21Z1 probes under standard stringency gave no signal on the der(9p13p) in both the proband and a carrier brother, whereas the der(9q13q) was labelled only with the centromere-9 alphoid repeat in the latter; yet, this probe under low stringency revealed a residual amount of alphoid DNA on the der(9p13p) in the carrier. Family 3, t(12;21): the D12Z3 probe gave a signal on the normal chromosome 12 and the der(12p21q), whereas the D13Z1/D21Z1 repeat labelled the der(12q21p), the normal chromosome 21, and both chromosomes 13. Out of 101 WATs compiled here, 73 are distinct exchanges, including 32 instances between chromosomes with common alphoid repeats. Moreover, 7/9 of recurrent WATs involved chromosomes from the same alphoid family. Thus constitutional WATs appear to recur more frequently than other reciprocal exchanges, often involve chromosomes with common alphoid repeats, and can mostly be accounted for the great homology in alphoid DNA that favours mispairing and illegitimate nonhomologous recombination.     

应用染色体涂染技术分析两例染色体结构异常 Analysis of the Structure of Abnormal Karyotypes by Using Chromosome Painting

为了确定两例细胞遗传学提示染色体结构异常的核型,应用通过显微切割技 术构建的人类18号和7号染色体探针池,分别对这两例病例的中期分裂相进行染色体涂染,结合显带染色体,确定两者核型分别为46,XY,t(3;18) (q12;q21)和46,XX,dir ins(1;7)(p3104;q34q36)。染色体涂染技术是染色体显带技术的重要补充和发展,为染色体结构异常提供了一种直观、准确的检测手段,在遗传咨询和产前诊断方面有重要作用。 Abstract:In this study,chromosome painting technique was performed to analyse the abnormal karyotypes of two carriers.Chromosome 18 and 7 specific libraries,which were generated by chromosome microdissection technique,were used as probe pools to hybridize the carriers metaphase chromosomes respectively.Unlabled human genomic DNA was used to inhibit the hybridization of sequences in the library that bind to mutiple chromosomes.Structure abnormality was detected clearly in metaphase.Combined with the banding chromosomes,we concluded that their karytypes were 46,XY,t(3;18)(q12;q21)and 46,XX,dir ins(1;7)(p3104;q34q36).Chromosome painting,as a direct and concise method in analysing chromosome structure abnormality,is an important complement and development of chromosome banding technique,and has important application in genetic counselling and prenatal diagnosis.     

A de novo complex t(7;13;8) translocation with a deletion in the TRPS gene region

Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8). Fluorescence in situ hybridization with yeast artificial chromosome and cosmid clones from 8q24.1 has shown an interstitial deletion of at least 3 Mb covering most of the TRPS I critical region. Received: 27 December 1996 / Accepted: 27 March 1997     

Comparative mapping of the constitutional and tumor-associated 11;22 translocations.

The reciprocal t(11;22)(q23;q11) is the most common non-Robertsonian constitutional translocation in humans. The tumor-associated 11;22 rearrangement of Ewing sarcoma (ES) and peripheral neuroepithelioma (NE) is cytologically very similar to the 11;22 constitutional rearrangement. Using immunoglobulin light-chain constant region, ETS1 probes, and the technique of in situ hybridization, we previously were able to show that the constitutional and ES/NE breakpoints are different. As a first step toward isolating these translocation junctions and to further distinguish between them, we have made somatic cell hybrids. Cells from a constitutional 46,XX,inv(9),t(11;22) carrier and from an ES cell line with a t(11;22) were separately fused to a hypoxanthine-guanine phosphoribosyltransferase-deficient Chinese hamster cell line (RJK88). Resulting clones were screened with G-banding and Southern hybridization. Hybrid clones derived from the constitutional t(11;22) were established which contained the der(22) and both the der(22) and the der(11). Hybrid clones derived from the ES cell line containing the der(11) were isolated. Using the technique of Southern hybridization we have sublocalized the loci; ApoA1/C3, CD3D, ETS1, PBGD, THY1, D11S29, D11S34, and D11S147 to the region between the two breakpoints on chromosome 11 and V lambda I, V lambda VI, V lambda VII, and D22S10 to the region between the breakpoints on chromosome 22. Using anonymous DNA probes, we found that D22S9 and D22S24 map proximal to the constitutional breakpoint and that D22S15 and D22S32 map distal to the ES breakpoint on chromosome 22.     

A cytogenetic survey of 200 unclassifiable mentally retarded children with congenital anomalies and 200 normal controls

Summary A cytogenetic survey was carried out on 200 patients with mental retardation and multiple congenital anomalies, and on 200 normal adult controls. Patients with a known syndrome were excluded from the survey. Chromosome analyses were carried out on blind-coded slides using the ASG banding technique as the routine stain. After the initial analyses (at least 15 cells per person) the slides were decoded, destained and reused for C and Q band polymorphism studies.Five major chromosome abnormalities were detected in the patient group during the survey. They included three patients with de novo, apparently balanced, reciprocal translocations, karyotypes 46,XY,rcp(3;16)(q21;p12); 46,XX,rcp(5;8)(p15;q22); and 46,XX,rcp(5;12)(p11;q24); one with karyotype 47,XX,+mar and one with karyotype 46,XX,der(13),t(13;?)(q34;?). One additional patient whose karyotype in lymphocytes was 46,XX,inv(9)(p11;q13) was found to have a mosaic karyotype 46,XX,inv(9)(p11;q13)/46,XX,inv(9) (p11;q13),der(12),t(12;?)(p13;?) in cultured skin fibroblasts. None of the 200 controls had a major chromosome abnormality.From the combined results of this and previous surveys it is now apparent that about 6.2% of the unclassifiable mentally retarded patients with three or more congenital anomalies and about 0.7% of the controls reveal major chromosome abnormalities.