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[Non-puerperal uterine inversion. Report of a case].

Non-puerperal uterine inversion is extremely rare. We report a case associated with leiomyoma. It is presented the case of a multiparous of 46 year-old for presenting severe vaginal bleeding, pelvic pain and strange body vaginal sensation. The diagnosis was uterine myoma in abortive phase. An abdominal hysterectomy was performed to find a complete uterine inversion. This report represents an anecdotal case of non-puerperal uterine inversion successfully treated surgically.

Female↗

[Uterine inversion].

The uterine inversion is a rare but serious pathology of the delivery. We describe two cases of uterine inversion of secondary and quaternary degree; the first had a delay diagnosis and the second having a return after the manual replacement, finishing both on surgical resolution. The authors describe the causal factors, the diagnosis and the therapeutic of uterine inversion.

Adult↗

Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv (3) (p25q21).

Human sperm chromosomes were studied in a man heterozygous for a pericentric inversion of chromosome 3(p25q21). The pronuclear chromosomes were analyzed after in vitro penetration of golden hamster eggs. A total of 144 sperm were examined: 69.2% were chromosomally balanced and 30.8% were recombinant. Of the balanced complements, the proportion with a normal chromosome 3 (37.6%) was approximately equal to the proportion with an inverted 3 (31.6%). Of the recombinant complements, the proportion of sperm with a duplication q/deletion p (17.3%) was approximately equal to the reciprocal event of duplication p/deletion q (13.5%). The recombinant chromosome 3 with a duplication q and deletion p has been observed in several abnormal children, but the duplication p/deletion q has never been reported. My results demonstrate that both recombinant chromosomes are produced as expected from an unequal number of crossovers within an inversion loop. In all likelihood the duplication p/deletion q chromosome is an early embryonic lethal because of the amount of genetic material deleted. The proportions of X-bearing (48.9%) and Y-bearing sperm (51.1%) were not significantly different from the expected 1:1 ratio. There was no evidence for an interchromosomal effect. Of the three inversions studied by human sperm chromosome analysis, recombinant chromosomes have been observed only in this case.

Adult↗

Paracentric inversion 14.

A new familial case of paracentric inversion of chromosome 14 inv(14)(q24.1q32.1) ascertained by multiple abortions in a female carrier is presented. A review of the literature revealed 14 cases of paracentric inversion 14 recorded so far. According to the different breakpoints, two major groups of inversions of the long arm of chromosome 14 can be recognized.

Abortion, Habitual↗

[Synapsis in single and double heterozygotes for partially overlapping inversions in chromosome 1 of the house mouse].

Electron microscopic analysis of synaptonemal complexes (SC) in single and double heterozygotes for the partially overlapping inversions In(1)1Icg, In(1)1Rk and In(1)12Rk in the Chromosome 1 of the house mouse reveals a dependence of synapsis and synaptic adjustment on the size and location of the inversions and their interaction. In(1)1Icg contains the insertions of inverted repeats Is(HSR: 1C5)1Icg and Is(HSR: 1I)2Icg as well as inverted euchromatic region. The synaptic adjustment of the D loops by shortening of asynapsed parts of the lateral elements of SC belonging to the insertions occurs at late zygotene-early pachytene stage. After that the synaptic adjustment of the inversion loops takes place. A delay in adjustment was found in diheterozygotes In(1)1Icg/In(1)1Rk and In(1)1Icg/In(1)12Rk. Morphological alterations of the asynapted terminal segments of lateral elements preventing synaptic adjustment were found in single and double heterozygotes for In(1)1Rk and In(1)12Rk. Correspondence between the size of asynapted regions and the probability of association of XY and heteromorphic bivalents was revealed.

Animals↗

[A paracentric inversion in the salivary gland chromosome 3R of Anopheles sinensis].

An inversion heterozygote has been found in the fourth stage larvae of the laboratory line of Shanghai Anopheles sinensis in our laboratory, the frequency of occurrence of the heterozygote being 2 to 5%. The characteristic inversion loop formed in the midst of chromosome 3R together with the break points arises from 26C to 30A segment of the chromosomes. This inversion paracentric is the first record in the literature available and may be of significance as a genetic marker in studying the inter-specific variation of Anopheles sinensis.

Animals↗

Paracentric inversion 11.

A new familial case of paracentric inversion of chromosome 11 inv(11)(q21q23.3) ascertained by multiple abortions in a female carrier is presented. A review of the literature shows 19 further cases of paracentric inversion 11. According to the different breakpoints, the inversions of the long arm of chromosome 11 may be classified into three types.

Abortion, Habitual↗

[Inversion of the metE-oriC-rpsE chromosome segment in Escherichia coli K12].

We have described recently a large inversion of the Escherichia coli chromosome (designated udpPf1), including region of the chromosomal replication region (oriC). The udpPf1 inversion was induced by Tn10 transposon (metE::Tn10). It results in increased expression of the uridine phosphorylase gene (udp) which is closely linked to the metE gene. The data of conjugational and transductional experiments presented in this report demonstrate that the udpPf1 inversion covers a chromosomal segment extending over 12 min of the E. coli genetic map and including the rpsE, crp and metE::Tn5 markers. The results are presented indicating that the increased uridine phosphorylase activity is due to fusion of the udp gene to a more strong promoter located, probably, in the operon for ribosomal proteins cluster, near 73 min on the E. coli chromosome.

Chromosome Inversion↗

Paracentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français.

The collection of paracentric inversions ascertained in French cytogenetics laboratories gives a sample of 32 unpublished cases. The carriers seem to have a normal reproductive fitness, without difference between males and females. No cases of aneusomie de recombinaison were found, and it is likely that almost all, and perhaps all cases were ascertained for a cause independent of the inversion. Some chromosomes are too frequently affected: 3, 7 and 14; conversely chromosome 2 was never involved, as in the literature. It remains difficult to know whether paracentric inversions occur at random or not.

Abortion, Spontaneous↗

Purification and properties of the Escherichia coli host factor required for inversion of the G segment in bacteriophage Mu.

G inversion in bacteriophage Mu requires the product of the DNA invertase gene gin and an Escherichia coli host factor termed FIS (factor for inversion stimulation). A recombination substrate must contain two recombination sites, arranged as inverted repeats, and a recombinational enhancer sequence termed sis. FIS has been purified to homogeneity. The purified protein has a relative molecular weight of 12,000 when analyzed under denaturing conditions. The intact protein behaves as a dimer of relative molecular weight 25,000 in gel filtration analysis. The purified protein does not possess any recombinogenic activity when assayed in the absence of the DNA-invertase Gin. In the presence of purified Gin FIS is the only additional protein required for efficient inversion. By performing gel retention assays, we show that FIS is a DNA-binding protein, which specifically binds to DNA fragments containing the recombinational enhancer sis.

Chromatography↗

Pericentric inversions in man. A French collaborative study. Groupe de Cytogénéticiens Français.

Pericentric inversions ascertained by the majority of French cytogenetics laboratories are collected and analysed. The whole sample is composed of 305 independent cases, most of which unpublished previously. inv(2)(p1200q14.100) = 87 probands, inv(5)(p1400q1400) = 22 probands, inv(10)(p11.22q21.109) = 17 probands, and inv(10)(p1209q11.109): 12 probands are the most recurrent. The risk of aneusomie de recombinaison varies from .00 to .10 in the progeny of inversion carriers, depending on the location of the breakpoints. The risk of other chromosome imbalances may be increased by a factor of 3, and that of abortions by a factor of 2. A reduction of fertility is likely to exist in male carriers, especially when large chromosomes are involved. In most instances, the apparent preferential segregation of the inverted chromosome may be due to ascertainment biases, but such segregations may exist for some recurrent inversions. Endogany may also explain recurrence, such as that of inv(2)(p12q14.100) which is observed mostly in the Jewish community originating from Spain before inquisition time and from North Africa.

Abnormalities, Multiple↗

Human chromosomal heteromorphisms in Delhi newborns. IV. Inter-relationship between C-band size and inversion heteromorphisms.

The inter-relationship of C-band size and inversion heteromorphisms was studied in 200 Delhi normal newborns (100 males and 100 females). A significant correlation between size and inversion heteromorphisms in males (r = 0.97) and females (r = 0.98) was observed. The results suggested that the larger the size of the C-band regions so the higher was the incidence of inversion.

Chromosome Banding↗

[Radiation-induced inversions and reciprocal translocations in Anopheles atroparvus].

Inversions and reciprocal translocations were induced in Anopheles atroparvus by irradiation of males with X-rays. 22 aberrations were produced in stocks and were identified as follows: 6 paracentric, 6 pericentric inversions and 10 reciprocal translocations (9 autosomal and 1 sex-linked). Partial sterility in the offspring of this stock is demonstrated. The practical significance of constructing stocks with inversions and translocations for genetic control of pest insects is considered.

Animals↗

[Pericentric inversion of the Y chromosome as an exclusion constellation].

A 37 year old second gravida received amniocentesis, because of advanced maternal age. Cytogenetic investigations of the fetal cells revealed a male karyotype with a pericentric inversion of the Y chromosome. Chromosome analysis of the father was also undertaken in order to decide whether this inversion was inherited or of de novo origin. The results of cytogenetic examinations of the mother as well as of two alleged fathers enabled us to detect an exclusion of paternity for one man and a positive hint of paternity for the other. The cytogenetic markers used were the inversion itself and a high Q-fluorescence intensity in one homologue of chromosome 13. The results show that the analysis of chromosomal polymorphisms may offer a suitable tool to avoid false interpretations concerning the origin of structural chromosome abnormalities in prenatal diagnosis (inherited or de novo).

Adult↗

[Familial pericentric inversion of chromosome 10. 2 new cases].

Two cases of pericentric inversion involving a chromosome no. 10 are reported in infertile men. Using R-, G-, and C-banding techniques, the inversions were identified as inv(10)(p15q11) and inv(10)(p11q21). A similar chromosome was found in a parent of one of the probands. The literature on similar cases is reviewed briefly and the relationship between pericentric inversion and sterility are discussed.

Adult↗

Prenatal detection of pericentric inversion of chromosome 12.

A pericentric inversion of chromosome 12 was detected in an unborn baby by a second-trimester amniocentesis for prenatal diagnosis because of advanced maternal age. Subsequently, the identical pericentric inversion was found in the phenotypically normal father and a sibling. In this case of familial pericentric inversion, the parents were assured that their unborn baby was anticipated to be normal. The importance of banding studies for precise identification of structurally abnormal chromosomes and the need for chromosome study of family members for the peroper counseling of prenatal diagnosis of such a variant chromosome are discussed.

Adult↗

Test for association of DDT resistance with inversion polymorphism in Anopheles arabiensis from Ethiopia.

Association of DDT resistance levels with chromosome inversion polymorphism was investigated in Anopheles arabiensis samples collected from southwestern Ethiopia. The frequencies of the 2Ra, 2Rd, and 3Ra inversions in 1988 and 1990 between the DDT survivors pooled from the 3 times of exposure and unexposed controls did not differ significantly. However, for 2Rb a significant association was observed (Mantel-Haenszel chi 2, stratified for year of collection = 10.4, P < 0.001). The inversion frequency was 56% among unexposed individuals, but it was 64-92% among those surviving exposure.

Animals↗

Host blood meals and chromosomal inversion polymorphism in Anopheles arabiensis in the Baringo District of Kenya.

Studies were carried out in the villages of Kapkuikui and Maji-Ndege in the Loboi area of Baringo District, Kenya, to obtain baseline data on species identification of the Anopheles gambiae group, their feeding and resting behavior, and their frequencies of chromosomal inversions. This was carried out towards predicting the effect of introducing permethrin-impregnated cloths or other intervention measures. In this study, Anopheles arabiensis was identified as the only species of the An. gambiae group. This species contained 2 inversions, 2Rb and 3Ra, occurring at frequencies ranging from 55 to 60%, and from 5 to 11%, respectively. There was no evidence for nonrandom mating. Indoor- and outdoor-collected samples were significantly different in respect of inversion 3Ra in one village and in the distribution of the different sources of blood meals in both areas. In these villages, 37% of indoor-resting mosquitoes fed outside before entering houses to rest.

Animals↗