Pericentric inversions of chromosome 4: report of a new family and review of the literature

Villa, A.; Urioste, Miguel; Carrascosa, M. C.; Vázquez, Socorro; Martinez, A. A.; Martı́nez-Frı́as, María Luisa

doi:10.1111/j.1399-0004.1995.tb04100.x

Cited by 12 publications

(4 citation statements)

References 19 publications

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“…Precedence for reduced recombination on inversion chromosomes (both within inverted segments and in flanking regions) came first from studies of Drosophila [Sturtevant and Beadle, 1936]. Multiple reports of large familial pericentric inversions of chromosome 4 with breakpoints in the q11‐q12 region have been reported [reviewed in Villa et al, 1995; Stipoljev et al, 2002]. There is precedence for common inversions elsewhere in the genome that reduce recombination.…”

Section: To the Editormentioning

confidence: 99%

Rheological behavior of noncompatibilized and compatibilized PP/PET blends with SEBS‐g‐MA

Kordjazi

Ebrahimi

2009

J of Applied Polymer Sci

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The rheological behaviors of noncompatibilized and compatibilized polypropylene/polyethylene terephthalate blends (80/20) in relation with their morphology were studied at two constant levels using maleic anhydridemodified styrene-ethylene-butylene-styrene polymer. By scanning electron microscopy of cryofractured surfaces, the morphology of the blends was examined after etching. The frequency sweep and step strain experiments were carried out for the blends. The frequency sweep results indicated that increasing the compatibilizer causes behavioral changes of the rheological properties, which could be related to the aggregation of the dispersed particles with rubbery shell. Also, the frequency sweep and step strain experiments in linear region, after cessation of simple steady shear flow with various preshear rates (higher shear stress values than G 0 p ), were done on compatibilized blend. The results showed that the morphology characteristics, defined by the aggregation of the dispersed particles based on rheological experimental data, were destroyed and replaced by an alignment in the flow direction for present imposed shear rates.

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Section: To the Editormentioning

confidence: 99%

Rheological behavior of noncompatibilized and compatibilized PP/PET blends with SEBS‐g‐MA

Kordjazi

Ebrahimi

2009

J of Applied Polymer Sci

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“…Precedence for reduced recombination on inversion chromosomes (both within inverted segments and in flanking regions) came first from studies of Drosophila [Sturtevant and Beadle, 1936]. Multiple reports of large familial pericentric inversions of chromosome 4 with breakpoints in the q11-q12 region have been reported [reviewed in Villa et al, 1995;Stipoljev et al, 2002]. There is precedence for common inversions elsewhere in the genome that reduce recombination.…”

mentioning

confidence: 99%

Analysis of a Scottish founder effect narrows the TAPVR‐1 gene interval to chromosome 4q12

Bleyl¹,

Botto²,

Carey³

et al. 2006

American J of Med Genetics Pt A

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“…According to the previous conclusion, duplicated segments are always longer than deleted ones in viable inv. dup del cases [ 6 , 12 , 13 ]. It sounds reasonable because a large deletion might be more deleterious than a large duplication.…”

Section: Discussionmentioning

confidence: 99%

Recombinant chromosome 4 in two fetuses - case report and literature review

Wang

Wen

et al. 2018

Mol Cytogenet

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BackgroundRecombinant chromosome 4 syndrome (rec 4 syndrome) is a rare genetic disorder, predominately resulting from a parental pericentric inversion of chromosome 4. To date, a total of 18 cases of rec (4) syndrome were published in literature. We report the first kindred of rec (4) syndrome analyzed using copy number variation sequencing (CNV-seq).ResultsA woman with two adverse fetal outcomes was described in the present study. The first fetus presented with severe intrauterine growth restriction, hyposarca, hydrothorax and ascites. The CNV-seq revealed a dup 4q and del 4p. The second fetus presented with cardiovascular disease of ventricular septal defect, overriding aorta and persistent trunk. The CNV-seq revealed a dup 4p and del 4q. We collected 18 rec (4) cases through literature review. Genotype-phenotype correlation analysis was also performed.ConclusionRecombinant 4 syndrome is a rare genetic disorder. It should be divided into two categories according to the alternative recombinant types. The clinical manifestations of rec (4) cases with dup 4q and del 4p are consistent with the Wolf-Hirschhorn syndrome. For cases harboring dup 4p and del 4q, the high incidence of congenital heart disease is prominent.

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Pericentric inversions of chromosome 4: report of a new family and review of the literature

Cited by 12 publications

References 19 publications

Rheological behavior of noncompatibilized and compatibilized PP/PET blends with SEBS‐g‐MA

Rheological behavior of noncompatibilized and compatibilized PP/PET blends with SEBS‐g‐MA

Analysis of a Scottish founder effect narrows the TAPVR‐1 gene interval to chromosome 4q12

Recombinant chromosome 4 in two fetuses - case report and literature review

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