Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q9UIJ5 (Rec)
 58,342 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.
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PMID:Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p11.2q21.3). 175 39

A female infant with karyotype 46,XX,rec(10),dup p inv(10)(p11.2q25.2)mat is presented. She had both duplication of 10p and deletion of distal 10q, but only had the constellation of specific features characteristic of duplication of 10p.
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PMID:Trisomy 10p syndrome owing to maternal pericentric inversion. 218 76

A 5-year-old boy with Down's syndrome of mild phenotype is described. Chromosome studies revealed that the karyotype of the proband was 46,XY,rec(21),dup q,inv(21) (p11.2q22.1)mat, and the segment 21q22.1----21qter was trisomic. The erythrocyte superoxide dismutase-1 (SOD-1) was found to be normal, and so we conclude that SOD-1 excess is not necessarily observed in patients with Down's syndrome caused by partial 21 trisomy. It is suggested that the gene for SOD-1 is located on the more proximal segment of the sub-band 21q22.1.
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PMID:A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess. 296 15

Isochromosomes are chromosomes with genetically identical arms. Chromosomes morphologically similar to isochromosomes can arise from alternative mechanisms: whole-arm translocations and crossing over within inversion loops. Cases are presented which could have arisen by each of these latter two mechanisms. The first case is 46,XX,t(15;15) (qter-cen-qter;pter-cen-pter) and the second 46,XY,rec(18),dup q,inv(18) (p11.32q11.2).
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PMID:Morphology alone does not make an isochromosome. 395 49

Chromosome preparations from four subjects, one normal 46,XY male and three patients with different rearrangements of chromosome 11: 46,XX,del(11)(p11.2----p15.1), 46,XY,inv(11)(p13q24.2), and 46,XY,rec(11)inv(11)(p13q24.2) pat, were utilized for in situ hybridization studies with a tritium-labeled cDNA probe containing a beta-globin insert. Using the hybridization technique described by Harper and Saunders (1981), there were 1-2 grains over each labeled metaphase. Of 360 cells scored, 88 were labeled over chromosome 11, band p15 (24%). Approximately half of the chromosome 11s labeled from the abnormal patients were the del(11) or inv(11). These results exclude the beta-globin locus from 11p11----p14, since these bands were not present in the deleted 11, and assign it to 11p15. This is in agreement with the recent exclusion data of de Martinville and Francke (1984) and Junien (1984), and suggestive assignment data of Morton et al. (1984).
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PMID:Localization of the beta-globin gene to 11p15 by in situ hybridization: utilization of chromosome 11 rearrangements. 398 80

V delta 3 usage and combinatorial expression of V gamma and V delta regions was studied on peripheral T cells with a novel V delta 3-specific mAb (p11.10b), generated against a soluble V gamma 9V delta 3 TCR. V delta 3+ cells represented the vast majority of V delta 1/V delta 2- gamma delta T cells within peripheral blood and mucosal lymphocytes. No preferential V gamma region expression was noted within V delta 3+ cells, but the frequency of V gamma 9+ cells was significantly lower among V delta 3+ than among V delta 1+ or V delta 2+ PBL. Phenotypic analysis of cultured V delta 3+ cells sorted with p11.10b mAb revealed the presence of T lymphocytes with unusual phenotypes. First, cells carrying two distinct surface TCR delta-chains, recognized by both V delta 1- and V delta 3-specific mAbs, were detected in most T cell lines, though at frequencies much lower than that of dual gamma expressors, indicating that allelic exclusion of delta genes is more tightly regulated than that of gamma genes. Moreover, a significant fraction of V delta 3+ cells were recognized by C beta- but not C delta-specific mAbs. Molecular analysis of V delta 3+C beta+ clones revealed the presence of V delta 3J alpha C alpha transcripts in all of them. Given the peculiar location of the V delta 3 gene between the delta Rec/psi J alpha elements, those observations formally demonstrate that activation of rearrangements with J alpha elements is not necessarily preceded by a delta Rec/psi J alpha-mediated deletion of the delta locus on the same chromosome.
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PMID:Repertoire analysis of human peripheral blood lymphocytes using a human V delta 3 region-specific monoclonal antibody. Characterization of dual T cell receptor (TCR) delta-chain expressors and alpha beta T cells expressing V delta 3J alpha C alpha-encoded TCR chains. 767 22

We report a familial recombination of a pericentric inversion of chromosome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(10) dup p,inv(10) (p11.2q26). Both of these individuals had the typical characteristics of 10p trisomy, however, at birth the proposita had mild facial anomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroesophageal reflux causing severe anemia. The phenotype of our patients is compared to 41 patients with 10p trisomy reported in the literature.
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PMID:Familial 10p trisomy resulting from a maternal pericentric inversion. 820 87

We report on a newborn girl with duplication of 18q12.2-->18qter and deficiency of 18p11.2-->18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18)(p11.2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(18) resulting from recombination of a parental pericentric inversion.
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PMID:Recombinant chromosome 18 resulting from a maternal pericentric inversion. 820 10

A female patient with primary amenorrhea, immature secondary sexual characteristics, and tall stature was found to have a normal X chromosome and a rearranged X [rea(X)] chromosome that resembled an 'isochromosome' Xp, but retained the proximal portion of Xq. The rea(X) was interpreted as rec(X)dup p,inv(X)(p11.4q13). Replication studies demonstrated that the rea(X) was always the late-replicating and, therefore, presumably inactive X chromosome, which must contain the X-inactivation center. Consistent with this interpretation, fluorescence in situ hybridization demonstrated that the rea(X) retained the XIST gene, and reverse transcription polymerase chain reaction analysis showed that XIST was expressed in the patient's cells. By fluorescence in situ hybridization with previously mapped probes, the breakpoint of the rea(X) was located within an approximately 500-kb region located approximately 200 to 700 kb distal to the XIST locus. This is the closest breakpoint distal to XIST in an inactivated X chromosome and, therefore, defines a new distal boundary for the X-inactivation center in humans.
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PMID:Mapping of the distal boundary of the X-inactivation center in a rearranged X chromosome from a female expressing XIST. 836 71

Here we report on a boy with both a partial deletion of chromosome 18p and a partial duplication of chromosome 18q, caused by a paternal pericentric inversion (46,XY,rec(18),dup q,inv(18)(p11.2q21.1)pat). The findings in the patient are compared to those in the literature. The symptoms in the described patient can be explained for the major part by the 18p- and 18q+ syndromes separately. A specific 18p-/18q+ syndrome cannot be clearly delineated yet. Inspiratory stridor is a symptom that has not been described before in either 18p- or 18q+, but has been found twice before in patients with the combined 18p-/18q+ syndrome.
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PMID:Partial deletion of 18p and partial duplication of 18q caused by a paternal pericentric inversion. 914 87


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