Inherited translocations in two families (t(14q+;10q−) and t(13q−;21q+))

Summary Two families with reciprocal translocations (t(14q+;10q–) and t(13q–;21q+)) are described. In both families the proband had multiple congenital anomalies and an unbalanced karyotype, 46,XY,14q+ and 46,XX,21q+ respectively. Routine, autoradiographic and fluorescence techniques were used for analysis of karyotype of probands and their relatives. The probands' phenotypes and the results of their family members' dermatoglyphic analysis are presented in detail.

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Zusammenfassung Zwei Familien mit reziproker Translokation (t(14q+;10q–) und t(13q–;21q+)) werden beschrieben. In beiden Familien weist der Proband multiple angeborene Mißbildungen und einen unbalancierten Karyotyp (46,XY,14q+ bzw. 46,XX,21q+) auf. Für die Analyse aller untersuchten Personen wurden neben der Routine-Methode autoradiographische und Fluorescenz-Methoden verwendet. Die Phänotypen der Probanden sowie die Ergebnisse einer Analyse der Dermatoglyphen bei ihren Familienangehörigen werden genau beschrieben.

     

Familial translocation t(3q+;8q−) studied by banding with Giemsa staining

Summary We have studied in cultured blood lymphocytes a familial translocation by banding with Giemsa staining, and have unequivocally identified the translocated chromosomes as Nos. 3 and 8, and besides we have established without doubt that the translocation has occurred between the short arm of chromosome No. 3 and the long arm of chromosome No. 8.

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Zusammenfassung Mit Hilfe von Bandenmustern, die mit Giemsafärbung zu erzielen sind, wurde eine familiäre Translokation in Lymphocytenkulturen untersucht. Die translozierten Chromosomen konnten eindeutig als Nr. 3 und Nr. 8 identifiziert werden; außerdem wurde zweifelsfrei festgestellt, daß die Translokation zwischen dem kurzen Arm von Nr. 3 und dem langen Arm von Nr. 8 erfolgt ist.

     

De novo translocation t(Yq−; 15p+) in a malformed boy

Summary De novo translocation of an important portion of the long arm of the Y chromosome to the short arm of No. 15 was observed in a mentally defective boy exhibiting several abnormal features: cleft palate, contracted fingers, synostosis of the 4th and 5th metatarsal bones, narrow iliac wings. Endocrinological studies suggest extreme hypogonadism.     

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 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.     

Chitinase and peroxidase in effective (fix+) and ineffective (fix−) soybean nodules

Chitinase and peroxidase, two enzymes thought to be involved in the defense of plants against pathogens, were measured in soybean (Glycine max L. Merr.) roots and in nodules colonized by Bradyrhizobium japonicum strains differing in their symbiotic potential. Activities of both enzymes were higher in nodules than in roots. In effective, nitrogen-fixing nodules, colonized by wild-type bacteria, chitinase and peroxidase activities had low levels in the central infected zone and were enhanced primarily in the nodule cortex. An ascorbate-specific peroxidase, possibly involved in radical scavenging, had similarly high activities in the infected zone and in the cortex. Ineffective nodules colonized by bacteria unable to fix nitrogen symbiotically showed a similar distribution of chitinase and peroxidase. In another type of ineffective nodule, colonized by a B. japonicum strain eliciting a hypersensitive response, activities of both enzymes were enhanced to a similar degree in the infected zone as well as in the cortex. Tissue prints using a direct assay for peroxidase and an antiserum against bean chitinase corroborated these results. The antiserum against bean chitinase cross-reacted with a nodule protein of M_r 32 000; it inhibited most of the chitinase activity in the nodules but barely affected the chitinase in uninfected roots. It is concluded that proteins characteristic of the defense reaction accumulate in the cortex of nodules independently of their ability to fix nitrogen, and in the entire body of hypersensitively reacting nodules.Abbreviations PAGE polyacrylamide gel electrophoresis - SDS sodium dodecyl sulphate This work was supported by the Swiss National Science Foundation, Grants 31-25730.88 (to R.B. Mellor and T. Boller) and 31-27923.89 (to A. Wiemken).     

Autoradiographische Identifizierung der an zentrischen Fusionen beteiligten D-Chromosomen bei fünf nichtverwandten Familien: t(14qGq); t(14qGq); t(15qGq); t(13q14q); t(13q15q)

Zusammenfassung Wir berichten über autoradiographische Untersuchungen der D-Chromosomen bei 5 nichtverwandten Familien mit Fusionstranslokationen. Aus der Literatur sind bislang 54 ähnliche Fälle bekannt, die zumeist über klinisch auffällige Individuen entdeckt wurden. Innerhalb dieser Stichprobe ist die Häufigkeit, mit der bestimmte akrozentrische Chromosomen miteinander fusionieren, nicht zufällig. Als mögliche Ursachen werden einerseits die Auswahl der Stichprobe und andererseits einige cytogenetische Mechanismen diskutiert. Erst über auslesefreie cytogenetische Populationsuntersuchungen kann entschieden werden, inwieweit die in der Stichprobe beobachteten Häufigkeiten mit denen in der Durch-schnittsbevölkerung übereinstimmen.

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Autoradiographic identification of D-group chromosomes involved in robertsonian translocation. A study of five unrelated families: t(14qG1); t(14qGq); t(t5qGq); t(13q14q); t(13q15q)

Summary DNA replication studies were carried out on the D-group chromosomes involved in the centric-fusion type chromosomal disorder in members of 5 non-related families. Ascertainement of similiar cases thus far has, almost exclusively, been achieved by investigation of non-balanced carriers. Within a total of 54 patients reported in the literature autoradiography revealed D-acrocentrics to be non-randomly involved. This might be due to ascertainement bias or to endogenous chromosomal mechanisms, as is discussed. It is considered impossible, however, to provide further evidence for the presumed excess of some types of translocation unless selection-free samples have been investigated.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

罕见的45,XY,t(14q14q)、45,XX,t(13q13q)致习惯性流产两例报告

本实验室发现两例十分罕见的同源染色体之间的罗式易位病例,核型分别为45,XY,t(14q14q)、45,XX,t(13q13q)现报告如下。 病例报告 例1:男,28岁,汉族,其妻子30岁,孕早期自然流产4次(孕8周1次,孕7周3次),妇科检查未见异常,诊断为习惯性流产。外周血淋巴细胞染色体检查:共分析30个分裂相,每     

Genetic aberration in primary hepatocellular carcinoma：correlation between p53 gene mutation and loss—of—heterozygosity on chromosome 16q21—q23 and 9p21—p23

To elucidate the molecular pathology underlying the development of hepatocellular carcinoma (HCC),we used 41 highly polymorphic microsatellite markers to examine 55 HCC and corresponding non-tumor liver tissues on chromosome 9,16 and 17.Loss-of-heterozygosity(LOH) is observed with high frequency on chromosomal region 17p13(36k/55,65%),9q21-p23(28/55,51%),16q21-23(27/55,49%) in tumors.Meanwhile,microsatellite instability is rarely found in these microsatellite loci.Direct sequencing was performed to detect the tentative mutation of tumor wuppressor genes in these regions:p53,MTS1/p16,and CDH1/E-cadherin.Wihin exon 5-9 of p53 gene,14 out of 55 HCC specimens(24%) have somatic mutations,and nucleotide deletion of this gene is reported in HCC for the first time.Mutation in MTS1/p16 is found only in one tumor case.We do not find mutations in CDH1/E-cadherin.Furthermore,a statistically significant correlation is present between p53 gene mutation and loss of chromosome region 16q21-q23 and 9p21-p23,which indicates that synergism between p53 inactivation and deletion of 16q21-q23 and 9p21-p23 may play a role in the pathogenesis of HCC.     

Trisomy 16q23→qter arising from a maternal t(13;16)(p12;q23): case report and evidence of the reciprocal balanced maternal rearrangement by the Ag-NOR technique

Summary We describe a female new-born with partial trisomy of the long arm of chromosome 16. The chromosome anomaly was the result of an unbalanced segregation of a maternal translocation t(13;16)(p12;q23). Dynamic (RBG, GBG) banding and the Ag-NOR technique ascertained the reciprocal balanced maternal translocation between the 16q23qter and 13q12pter segments because nucleolar organizers were present on the tip of long arms of the derivative 16 maternal chromosome. As monosomy 13p has little or no deleterious effect we consider our case as exhibiting the phenotype of trisomy 16q23qter free from any monosomic feature. Clinical effects are of less consequence as compared with previously published cases of partial trisomy 16q.     

A boy with 47,X,del(X)(p11→q13::q21→q24),del(Y)(q11)

Summary A patient is described carrying a duplication 4p12pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.Postdoctoral fellow of the Deutsche Forschungsgemeinschaft.     

C-banding analysis on wild Emmer (Triticum dicoccoides Körn) strains with and without spontaneous reciprocal translocations

C-banding polymorphism was analyzed in eight strains of wild Emmer, Triticum dicoccoides Körn, which included six translocation homozygotes reported previously. Polymorphisms were detected in all of the strains examined, and the breakpoints of five spontaneous translocations were successfully identified by C-bands. Of the eight breakpoints that could be precisely identified, one was located in the centromeric region while the remaining seven were located in proximal to distal euchromatic regions. The two breakpoints of one translocation could only be approximately localized to proximal regions due to the scarcity of C-bands. The present results are in contrast with those observed on T. araraticum, another wild tetraploid wheat belonging to the Timopheevi group, in which most of the breakpoints were located in centromeric regions. In T. dicoccoides, the six translocation chromosome types were derived from the standard karyotype primarily by a mechanism other than centric breakage-fusion.     

Molecular characterization of G2m(n+) and G2m(n−) allotypes

Immunoglobulin (Ig) allotype typing is usually performed with serological methods based on hemagglutination inhibition. The recent development of molecular techniques has allowed the molecular typing of several Ig markers. The hinge, CH2, and CH3 domains of the G2 gene from six unrelated individuals (three G2m(n+) and three G2m(n–)) were amplified and cloned to establish the molecular basis of the G2m ⁿ⁺ and G2m ^n–. Comparison of the allele sequences revealed three changes: two (codons 308 and 437) are silent exonic substitutions, one is a G to A transition corresponding to an amino acid difference in position 282: Val (GTG) in G2m ^n–, Met (ATG) in G2m ⁿ⁺. These substitutions were identified via two approaches: 282 polymorphism, after digestion of a specific polymerase chain reaction product with Nla III followed by acrylamide electrophoresis; 308 and 437, by a dot-blot technique using allele-specific oligonucleotides. These molecular typing results correspond exactly to those obtained serologically; moreover, the three substitutions defining the G2m ⁿ⁺ and G2m ^n– alleles are always associated in a strict linkage disequilibrium.The nucleotide sequence data reported in this paper have been submitted to the EMBL nucleotide sequence database and have been assigned the accession numbers Z49801 and Z49802     

Partial trisomy 13q21→qter de novo due to a recombinant chromosome rec(13)dup q

Summary A female is described who has a karyotype with an additional distal half of 13q in a recombinant rec(13)dup q chromosome. Since her parents have normal karyotypes, the origin of her karyotype is assumed to be a premeiotic pericentric inversion de novo with crossing-over within the inversion loop at meiosis. By means of various banding techniques, the breaks preceding the rearrangement could be located exactly. The joint between the duplicated segment and the satellites of the receptor chromosome is of special note. The phenotype of the patient stated at the age of 9 months and at the age of 71/2 years was found to be related to the segments involved in the partial trisomy. The clinical features were largely in accordance with previous case reports having an identical extent of the triplicated 13q segment.     

Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome

Summary A mentally retarded boy with trisomy 9p is described. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in his mother, who has a complex translocation involving chromosomes 9, 13, and 14. Based on both G-, Q-banding, and DNA replication patterns, the patient's karyotype was identified as 47,XY,-13, +(9;13) (9pter9q12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter). We suppose his mother's karyotype to be 46,XX,-9,-13,-14,+t(9;13) (9pterq12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter), +t(9;14) (9qter9q12::14pl?14qter). His phenotypically normal brother and sister are also carriers, having the same translocation chromosome as their mother. Clinical findings of the patient included peculiar face with hypertelorism, prominent nasal bridge and deformed helix, marked delay of osseous development, hypoplastic phalangia in fingers and toes, dysplastic nails and absence of digital triradii.     

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...     

Trisomy 6p22→6pter due to familial t(6;13)(p22;q34 or 33) translocation

Summary 235 cases of Down's syndrome were ascertained in a 10-year study of Down's syndrome in Western Australia. Although cytogenetic studies performed on 222 subjects confirmed that 95% of cases were trisomic due to nondisjunction, 4% were trisomic due to translocation, and 1% were mosaic, the ratio of inherited/sporadic translocations differed from that usually reported. Comparison of the results with those of an earlier Australian survey of Down's syndrome demonstrated a real fall in the incidence of Down's syndrome in Australia but no significant change in maternal age-specific incidences.