No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome

Martinez, Maria-Jose; Binkert, Franz; Schinzel, Albert; Kotzot, Dieter

doi:10.1002/1096-8628(2001)9999:9999<::aid-ajmg1177>3.0.co;2-q

Cited by 11 publications

(5 citation statements)

References 10 publications

(14 reference statements)

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“…This confirms that this phenotypic syndrome is genetically heterogeneous. 20 Determination of the breakpoints in the previous reports was not as accurate as in the present case. The relatively new cytogenetic techniques (FISH and CGH) provide important additional information, leading to a more detailed description of a pure de novo trisomy 1q syndrome.…”

Section: Discussioncontrasting

confidence: 78%

APC gene mutation does not predict duodenal cancer

2002

Journal of Medical Genetics

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Section: Discussioncontrasting

confidence: 78%

APC gene mutation does not predict duodenal cancer

2002

Journal of Medical Genetics

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“…One of the candidate regions on chromosome 7 for SRS has been proposed at 7p11.2 after the discovery of a segmental duplication of 7p11.2‐p13 in one SRS patient, encompassing the GRB10 , IGFBP1 , and IGFBP3 genes [Monk et al, 2000]. However, four series of 36, 11, 84, and 84 families, respectively, did not find evidence for duplication of genes in that region [Monk et al, 2000; Martinez et al, 2001; Mergenthaler et al, 2001; Riegel et al, 2003]. Segmental UPD for the same region could also be excluded in 95 patients [Riegel et al, 2003].…”

Section: Discussionmentioning

confidence: 99%

Encapsulating chondrocytes in copolymer gels: Bimodal degradation kinetics influence cell phenotype and extracellular matrix development

Rice

Anseth

2004

J Biomedical Materials Res

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Hydrogels provide an ideal environment for encapsulating chondrocytes and facilitating the production of cartilaginous tissue. However, the deposition of extracellular matrix (ECM) and ultimate tissue function are significantly affected by degradation of gel scaffolds. It was hypothesized that a bimodal degradation process would capture the critical features necessary for neotissue development. Specifically, most of the initial crosslinks would degrade quickly and enable ECM deposition, whereas a critical amount would remain or degrade much more slowly to provide structural integrity over a longer time period. In this study, chondrocytes were encapsulated in copolymer gels of nondegradable [poly(ethylene glycol) dimethacrylate] and degradable [poly(lactic acid)-b-poly(ethylene glycol)-b-poly(lactic acid) dimethacrylate] macromers to investigate the effects of gel degradation on ECM evolution. All gels were synthesized from 10 wt % total macromer solutions consisting of 0, 19, 21, 23, 25, or 100 mol % nondegradable units. The copolymer constructs were found to have lower DNA content than completely degradable constructs after 8 weeks. However, total biochemical content was very similar among the various copolymer constructs. Histological analysis gave more interesting insight, showing a more uniform spatial distribution of ECM components in copolymer samples than in constructs with 100 mol % nondegradable units. In addition, a number of major structural defects were present in constructs with 0 mol % nondegradable units that became less apparent as the amount of nondegradable units was increased. Overall, the copolymer gels had a higher compressive modulus during neotissue development and also showed no evidence of chondrocyte dedifferentiation. With their bimodal degradation profile, copolymer gels with carefully selected ratios of degrading to slow or nondegrading crosslinks provide distinct advantages for ECM development in tissue-engineered cartilage.

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“…Alternatively, it is still possible that SRS and the 7p duplications are unrelated. This notion is supported by the lack of documented duplication or mutation of GRB10 in a number of SRS patients studied [Joyce et al, 1999;Monk et al, 2000;Martinez et al, 2001;Mergenthaler et al, 2001;Hitchins et al, 2001a].…”

Section: Discussionmentioning

confidence: 91%

Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver–Russell syndrome

Leach

Chudoba²,

Stewart

et al. 2007

American J of Med Genetics Pt A

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We report on a familial duplication in the short arm of chromosome 7, dup(7)(p11.2p12), present in three generations. The duplication was identified by GTG-banding and fluorescence in situ hybridization (FISH) with a whole chromosome 7 DNA painting probe that verified that the duplicated material originated from chromosome 7. The multicolor banding (mBAND) was used to refine the breakpoint assignment. The duplication identified in the proband was also present in her son and mother. All three carriers have mild cognitive deficiencies. Interstitial duplications of the short arm of chromosome 7, although relatively uncommon, have been described in association with a variety of clinical features, including mental retardation of varying severity. Duplication of the p11.2p13 region on chromosome 7 was reported in association with Silver-Russell syndrome (SRS), and an overlapping dup(7)(p11.2p14.1)dn was described in an individual with autistic disorder. Furthermore, a potentially overlapping maternally transmitted inverted duplication, dup(7)(p13p12.2), was reported in patients with cognitive delay. These observations and the phenotype of our duplication carriers suggest that partial trisomy of the proximal 7p region causes cognitive deficiency. The maternal origin of the duplication is of special interest in light of genomic imprinting and implication of the 7p11-p13 region in the SRS etiology. Locus-specific FISH targeting a growth factor receptor binding protein 10 (GRB10), the strong candidate for SRS residing at 7p12.2, showed that it is not duplicated in our patients. Our study helps refine the SRS critical region on 7p and extends our understanding of the clinical manifestations associated with 7p duplications.

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No evidence of dup(7)(p11.2p13) in Silver-Russell syndrome

Cited by 11 publications

References 10 publications

APC gene mutation does not predict duodenal cancer

APC gene mutation does not predict duodenal cancer

Encapsulating chondrocytes in copolymer gels: Bimodal degradation kinetics influence cell phenotype and extracellular matrix development

Maternally inherited duplication of chromosome 7, dup(7)(p11.2p12), associated with mild cognitive deficit without features of Silver–Russell syndrome

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