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The inv dup(15) is the most common supernumerary chromosome in the general population. Inv dup(15) chromosomes are cytogenetically heterogeneous and are associated with a variety of clinical phenotypes. The classification of inv dup(15)s as large or small is based on the presence or absence, respectively, of Prader-Willi and/or Angelman syndrome (PWS/AS) loci. Large inv dup(15)s are associated with a clinical phenotype that includes mental and growth retardation, seizures, and dysmorphisms [Robinson et al., 1993a,b; Cheng et al., 1994; Leana-Cox et al., 1994]. Individuals with small inv dup(15)s containing no PWS/AS loci have variable phenotypes, ranging from normal, in the majority of cases [Stetten et al., 1981; Knight et al., 1984; Webb, 1994], or with apparently coincidental mental retardation [Leana-Cox et al., 1994], to PWS or AS resulting from associated uniparental disomy (UPD) or deletion of a chromosome 15 homologue [Robinson et al., 1993a,b; Cheng et al., 1994]. Small inv dup(15)s are further grouped as class I or II based on the proximity of the breakpoint to the centromere [Huang et al., 1997], class I with a breakpoint between the centromere and the most proximal chromosome 15 loci identified to date, D15S541/D15S542, and class II with a breakpoint between the centromere and the more distal chromosome locus, D15S543. The de novo large and small class II inv dup(15)s have a maternal origin [Huang et al., 1997] and U-type exchange between non-sister chromatids has been proposed for their mechanism of formation [Schreck et al., 1977; Van Dyke et al., 1977; Wandstrat et al., 1998]. The parental origin of class I inv dup(15)s has not yet been demonstrated. Patient LD, a female, was ascertained at birth (both parents 30 years of age at delivery) because of central hypotonia and minimal dysmorphic features. A clinical diagnosis of Prader-Willi syndrome was made. Karyotype analysis showed that LD had a supernumerary bisatellited marker, identified by DA/DAPI staining as derived from chromosome 15 in each cell examined. The G-band pattern suggested that the inv dup(15) was very small, with no 15q12 or 15q13 material. The parental karyotypes were normal. LD and her father were noted to have apparently identical large satellites by Q-banding (Fig. 1), suggesting that the inv dup(15) arose as a paternal event. FISH analysis demonstrated that there were no copies of PWS/AS loci present (data not shown). The karyotype in LD was therefore designated as 47,XX,+inv dup(15)(pter-> q11.1)de novo.ish inv dup(15)15q11.2(D15S11-,SNRPN-,D15S10-,GABRB3-). Microsatellite analyses of LD and her parents demonstrated that LD has failed to inherit a paternal allele in at least two PWS loci (D15S11 and D15S113) [Mutirangura et al., 1992] (data not shown). At locus D15S542 [Christian et al., 1995] (Fig. 2), LD inherited maternal alleles 1 and 3 and no paternal allele. LD also inherited two maternal and no paternal alleles at locus D15S543 [Christian et al., 1995] (data not shown). Pedigree of LD showing paternal origin of the inv dup(15) based on chromosome 15 satellite Q-band polymorphisms. PCR analysis of patient LD and her parents with polymorphic CA repeats for locus D15S542. Alleles produced by the PCR typing are labelled to the right of each autoradiograph. Therefore, the inv dup(15) chromosome in patient LD was shown to originate from the father, based on the presence of a large polymorphic satellite in both father and daughter (Fig. 1). The lack of PWS/AS loci on the inv dup(15) and only maternal alleles at loci D15S11, D15S113, D15S542, and D15S543 supports the clinical diagnosis of PWS by maternal UPD for chromosome 15 (Fig. 2). The distinctly different satellite polymorphisms on the two ends of the inv dup(15) suggest that it resulted from a premeiotic/meiotic U-type exchange between non-sister chromatids of the paternal normal chromosome 15 homologues, followed by meiosis resulting in a gamete containing only an inv dup(15). This paternal gamete then likely fertilized a maternal gamete heterodisomic for normal chromosome 15s as a result of a maternal meiosis I non-disjunction event. The conceptus was thus “rescued” from partial chromosome 15 monosomy and ultimately resulted in PWS. These findings are consistent with and support the proposal of Robinson et al. [1993b] that uniparental disomy explains the occurrence of PWS in patients with supernumerary inv dup(15)s. Microsatellite repeat polymorphisms at loci D15S542 and D15S543 showed only maternal alleles and indicate that this is a class I small inv dup(15). To the best of our knowledge, this is the first report of the paternal origin of a small class I inv dup(15). A paternal origin of a small inv dup(15), also based on cytogenetic polymorphisms, was reported previously [Wisniewski et al., 1980], but microsatellite analysis was not available. It is would be interesting to further classify this small inv dup(15) as class I or II. The authors would like to acknowledge Dr. A.E. Chudley for referring patient LD. We would also like to gratefully acknowledge the technical expertise provided by Ms. Tracey Russnak-Redden. This work was supported by a grant from the Manitoba Health Research Council to AJD.
Summary Nickelblödite, the nickel analogue of blödite, has been discovered in nickel mines at Kambalda and Carr Boyd Rocks in Western Australia. The Kambalda sample, found in an underground opening, has a composition corresponding to Na 2·02 (Ni 0·79 Mg 0·14 Fc 0·05 )(SO 4 ) 2·00 ·3·17H 2 O. The sample from Carr Boyd Rocks, collected from an open pit, is a more magnesian variety, with a composition corresponding to Na 1·93 (Ni 0·55 Mg 0·46 Cu 0·02 Co 0·02 )(SO 4 ) 2·01 ·4·39H 2 O. The mineral occurs as a surface efflorescence on nickel-rich sulphide ore in both cases. Nickelblödite is light green and transparent, and occurs as tabular crystallites up to 150 μm in diameter. The Kambalda material is biaxially negative with 2V = 60–70° α = 1·513, β (calc) = 1·518 and γ = 1·520. D 2·43, indentation hardness VHN 139. The Carr Boyd material has lower refractive indices and hardness. Strongest lines of the indexed powder pattern (Kambalda sample) are 4·466(9), 4·193(7), 3·720(6), 3·223(10), 3·190(8), 2·589(6). These measurements conform to a monoclinic unit cell with α = 10·87, b = 8·07, c = 5·46Å, and β = 100·72°. The possibility of H 3 O + substitution is discussed.
Abstract Background: Little is known about how women who receive an inconclusive result from BRCA1/2 testing interpret their result. Clinical observations suggest that some of them may be falsely reassured and, consequently, may not adhere to recommended surveillance. The purpose of this study is to evaluate whether women with inconclusive BRCA1/2 test results are falsely reassured. Methods: Participants were adult women with a family history suggestive of a germ-line mutation in either the BRCA1 or the BRCA2 gene who underwent genetic testing in the context of the interdisciplinary research program INHERIT BRCAs. Data were collected using selfadministered questionnaires at genetic counseling and 1 month after result disclosure. Reassurance was assessed through indicators of cancer risk perception, cancer worry, relief following result disclosure, painfulness of the test result, and its effect on quality of life. Results: Five-hundred women (105 carriers, 140 noncarriers, and 255 inconclusive) were included in this analysis. Compared to noncarriers, women with inconclusive results had higher cancer risk perception, were more worried about cancer, were less relieved by their test result, and perceived their quality of life as being more adversely affected by it. Conclusion: The differences observed between noncarriers and women who received an inconclusive result run counter to the hypothesis that the latter are falsely reassured following BRCA1/2 testing. For clinicians, our findings show the value of taking precautions to fully explain to women that inconclusive results do not rule out the possibility that they still may face a higher risk of developing breast and/or ovarian cancer. (Cancer Epidemiol Biomarkers Prev 2005;14(12):2862–7)
Summary The garnierite, which occurs in the oxide zone overlying a nickel sulphide deposit, consists of talc-like and serpentine-like components, with the former predominating. Chemical and electron-probe analyses give NiO contents ranging between 39.6 and 43.9 weight %.
Journal Article A BstXI polymorphism detected by the factor VIII genomic probe p.482.6 (F8C) Get access S.A.M. Taylor, S.A.M. Taylor Department of Pathology, Queen's UniversityKingon, Ontario K7L 3N6, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar P.J. Bridge, P.J. Bridge Department of Pathology, Queen's UniversityKingon, Ontario K7L 3N6, Canada Search for other works by this author on: Oxford Academic PubMed Google Scholar D.P. Lillicrap D.P. Lillicrap * Department of Pathology, Queen's UniversityKingon, Ontario K7L 3N6, Canada *To whom correspondence should be addressed Search for other works by this author on: Oxford Academic PubMed Google Scholar Nucleic Acids Research, Volume 17, Issue 15, 11 August 1989, Page 6426, https://doi.org/10.1093/nar/17.15.6426 Published: 11 August 1989
Article Evaluation of the Quantase™ neonatal immunoreactive trypsinogen (IRT) screening assay for cystic fibrosis was published on May 1, 2005 in the journal Clinical Chemistry and Laboratory Medicine (CCLM) (volume 43, issue 5).
Central catecholamine concentrations were determined in autopsy brain samples from 19 elderly schizophrenic patients and controls. Data from the hypothalamus and nucleus accumbens demonstrate altered catecholamine metabolism associated with cognitive impairment in these subjects. Both loci show decrements of norepinephrine concentrations, while the nucleus accumbens samples also show increased dopamine, dihydroxyphenylacetic acid, and 3-methoxy-4-hydroxyphenylglycol concentrations associated with dementia in these subjects. The data argue for examination of catecholamine metabolism with respect to dementia in a broad range of elderly subjects.
