Pure monosomy and trisomy 2q24.2→q3105 due to an inv ins(7;2)(q21.2;q3105q24.2) segregating in four generations

Summary An inv ins(7;2)(q21.2;q3105q24.2) was found to segregate through four generations of a family. Adjacent-1 segregation aneusomies were ascertained in five patients: three monosomics and two trisomics; and the corresponding syndromes were delineated. The comparative analysis between these and other previously described 2q aneusomic individuals led to the conclusion that a large cleft between first and second toes is a constant feature in monosomy 2q24q31. No other trait could plausible be mapped. Risks of 7.9 to 31.9% for aneusomic children and of 26.3% for abortion were estimated in the present family.     

Two reciprocal translocations t(9p+;13q−) and t(13q−;21q+)

Summary Two reciprocal balanced translocations 46,XY,t(9;13)(p23;q21) and 46,XX,t(13;21)(q21;q21), identified by RFA- and GTG-banding, are presented along with a complete study of both families.In the second case a 3:1 segregation is associated with an unbalanced 2:2 segregation, as demonstrated in the two surviving sons: one with interchange trisomy 21 and the other with partial trisomy 13 and partial monosomy 21. This suggests that the presence of this translocation, and possibly of other translocations involving morphologically similar chromosomes, could signify a high risk of having chromosomal disorders in offspring.     

Regional assignment of the loci for adenylate kinase to 9q32 and for α1-acid glycoprotein to 9q31-q32

Summary Normal levels of adenylate kinase (AK-1) and of ₁-acid glycoprotein (ORM1) were found in a girl with a deletion 9q32-qter secondary to a maternal translocation (4q35; 9q32), thus excluding these loci from the deleted region. These results, and comparison with other informative data, map the locus for AK-1 to 9q32 and that for ORM1 to region 9q31-q32. The girl has several signs of the Goltz syndrome (focal dermal hypoplasia), which is listed in the McKusick catalog (no. 30560) as an X-linked dominant condition. Our finding indicates that the locus for Golz syndrome is autosomal and in region 9q32-qter or that there are two such conditions, one autosomal and one X-linked.     

Assignment of the gene for human tenascin to the region q32–q34 of chromosome 9

Summary Tenascin (TN) is a hexameric extracellular matrix glycoprotein that is highly expressed in solid tumors but has a restricted distribution in normal adult tissues. Each TN subunit is composed of segments with high homology to the sequences of epidermal growth factor, fibronectin and fibrinogen. Furthermore, it has been suggested that TN could modulate epithelial-mesenchymal and neuronal-glial interactions. Here, using a cDNA probe to human TN, we have carried out Southern blot analysis of the genomic DNAs from a panel of human-hamster somatic cell hybrids carrying different complements of human chromosomes. The results demonstrate that the human TN gene is located on chromosome 9. Furthermore, in situ hybridization studies demonstrate that human TN is located at 9q32–q34.     

11q;22q易位的细胞遗传学亚型——附三例高分辨显带分析

11号与22号染色体长臂之间的易位t(11q;22q)是一种比较常见的染色体异常。在不平衡易位时,它导致22号长臂的部分三体性,但患者的临床表现和文献中报告的易位断点的位置均很多样。本文对来自三个家系的3名易位携带者的外周血培养细胞染色休进行了常规和高分辨显带分析,结果发现3名携带者易位染色体的构成均为t(11q25;22ql3.1)。因此,在复习和汇总文献资料的基础上,提出此种易位目前至少可区别11q23;22qll与llq25,;22ql3两种主要细胞遗传学亚型。     

Are nurse‐protégé interactions more common among plants from arid environments?

Abstract. Harsh conditions in arid and semi‐arid environments make seedling establishment rare. Plant recruitment in arid environments often occurs only in years with above average rainfall or in safe sites under the canopy of nurse plants that provide shelter from high temperatures and low moisture. Associations of establishing seedlings with adult plants are referred to as nurse‐protégé interactions and are thought to be commensalisms in which seedlings benefit from the micro‐environment created by adult plants with no effect for the latter. This phenomenon is thought to be more frequent in harsh than in mild environments and appears to occur frequently in deserts and arid and semi‐arid biomes. Here, we investigate whether nurse‐protégé interactions are more common in arid environments by searching the published literature from the previous 92 years using the terms nurse plants, protégé plants, facilitation, nucleation and facultative mutualism. We then quantitatively compared these reports from arid zones to other environments. A total of 296 papers were found which referred to nurse‐protégé interactions. More than half (158) focused on arid and semi‐arid zones. This information was also used to explore hypotheses of potential causative forces that might have selected for such interactions in the arid zones such as seed trapping, nutrient, moisture, protection from browsing or trampling and support availability. Because of the large number of different nurse species (147, from 98 genera and 40 families) and protégé species (429, from 273 genera and 84 families), described across a diversity of environments, we suggest that there may be more than one causative factor selecting for nurse‐protégé interactions in arid and semi‐arid environments.     

一家系三例rcp(5; 11)(q35；q13）核型报告

我室在1983年和1986年两次对一家系成员作染色体检查和家系调查，发现7人中有3例rcp (5;11)'(q35; q13）平衡易位患者。查阅文献［1,4,6,9],国内外尚无报道。     

Caractéristiques géométriques de la séquence Hα?Cα?N?H de l'isoquinuclidone-3 examinée dans différents etats physiques influence sur la constante de couplage vicinal J

The X-ray structure analysis of a crystalline sample of 2-azabicyclo-[2,2,2]-octanone-3 or 3-isoquinuclidone shows that the molecules of this compound are associated in centrosymmetrical dimers stabilized by two N? H? O?C hydrogen bonds in which the N,H,O atoms are nearly collinear. As a consequence of this interaction, the H atom is shifted from its usual position and the C^α? N? H angle is increased to 125°. Using infrared spectroscopy (ν_N–H frequency range), it is possible to demonstrate that 3-isoquinuclidone is mainly in a dimeric form when dissolved in an inert solvent such as CCl₄ and to observe the dimer-monomer equilibrium on dilution from saturation to a low concentration (0.005 mole/l.). On the contrary, dimers are broken off when operating in a polar medium (acetonitrile, deuterochloroform). In the same experimental conditions, measurements of the J vicinal coupling constant, by nuclear magnetic resonance spectroscopy, afford a concentration-dependent result in the case of CCl₄ solutions (increasing from 5.4 to 5.7 Hz when diluting from 0.5 to 0.005 mole/l.) and a constant one (5.8 Hz) in the case of CH₃CN or CDCl₃ solutions. Then the 0.4-Hz difference can be attributed to geometrical changes in the H^α? C^α? N? H system when dimers are broken off and the valence angle C^α? N? H consequently decreases from 125° to its standard value (about 115°). This experimental observation is consistent with the result of a theoretical analysis performed by the INDO method. Then it seems that the use of the formulas proposed by Karplus to account for the valence angle distorsions in ethane-like systems, in the case of the H^α? C^α? N? H sequence, could yield overstimated corrections.     

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。     

A newborn child with karyotype 47,XX,+der(12) (12pter→12q12::8q24→8qter),t(8;12) (q24;q12) pat

Summary A case of Meckel or Gruber syndrome is reported, together with a survey of the relevant literature of recent years (1971–1977), in reference to a probably autosomal recessive inheritance of this malformation.     

Sublocalization of von Willebrand factor pseudogene to 22q11.22–q11.23 by in situ hybridization in a 46,X,t(X;22)(pter;q11.21) translocation

Summary The von Willebrand factor pseudogene, previously mapped to chromosome 22, was sublocalized by in situ hybridization using as probe a von Willebrand factor cDNA fragment completely contained in the pseudogenic region. Chromosome spreads were from a patient carrying a unique balanced de novo translocation 46,X,t(X;22)(pter;q11.21). Silver grain analysis indicated that the human von Willebrand factor pseudogene is located on 22q11.22–q11.23, a region relevant for several somatic and constitutional chromosomal alterations.     

从9q34肌氨酸血症位点克隆人二甲基甘氨酸脱氢酶样基因

将鼠二甲基甘氨脱氨酶样基因（ｉｍｅｔｈｙｌｇｌｙｃｉｎｅｄｅｈｙｄｒｏｇｅｎａｓｅ－ｌｉｋｅｇｅｎｅ）的部分 编码序列对ＥＳＴ数据库进行同源性分析,得到与其显著相似的１个人ＥＳＴ（ＧｅｎＢａｎｋＨ２８８５６）（３３０ｂｐ）。此ＥＳＴ与９ｑ３４上的２个ｇＤＮＡ的文库中载体臂上上两端的引物ＰＣＲ,在所得ｃＤＮＡ上再设计引物与ｃＤＮＡ文库载体臂上引物ＰＣＲ,最终在肝ｃＤＮＡ文库获得１个完整编码区的ｃＤＮ     

Transposition of 9q34 and 22 (q11→qter) regions has a specific role in chronic myelocytic leukemia

Summary Six cases are reported of variant Ph translocations found among 240 patients with Ph-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3 respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11qter), plays a major role in the development of CML.     

A 9p13→p24 duplication coupled with a whole 22q translocation onto 9p24

We report on a 3-year-old girl with a typical 9p trisomy syndrome, whose 45-chromosome karyotype includes a 9p+. As assessed by G, C and Ag-NOR bands, the rearranged chromosome resulted from a 9p13-->p24 direct duplication coupled with a translocation of the whole 22q onto 9pter, had heterochromatin at the junction site, lacked both nucleolar organizing regions (NORs) and centromere dots at the unconstricted fusion point, and was present in all metaphases scored. FISH results: a 9p subtelomere probe gave a diminished signal on the 9p+ precisely at the duplication junction 9p24::9p13, but no labeling was observed at the 9;22 translocation site; a pancentromeric alphoid probe labeled all centromeres, and gave a distinct signal at the 9pter;22cen junction. Hence, her karyotype was 45,XX,rea(9;22)(9qter-->9p24::9p13-->9p24::22p10-->22qter).ish rea(9;22) (9psubtel+dim,pancen+). Parental chromosomes were normal. The distinctiveness of the present centromere-telomere fusion rests on the coupling of an intrachromosomal distal duplication with a whole-arm translocation including alphoid DNA onto the duplicated segment. The centromeric inertia of the residual alphoid DNA in the present case compares with the variable functional status of the chromosome 22 centromere in true heterodicentrics involving such a chromosome.     

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...