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Central nervous system: Adult-onset and psychiatric disorders
Published in Angus Clarke, Alex Murray, Julian Sampson, Harper's Practical Genetic Counselling, 2019
Primary torsion dystonia follows autosomal dominant inheritance in most cases, though with incomplete penetrance in some gene carriers and minimal expression in others; the disorder is more common in Ashkenazi Jews. A single mutation in a specific gene on chromosome 9 has been found to be responsible for almost all typical cases, Jewish and non-Jewish, including most sporadic early-onset cases. Late-onset dystonia is poorly understood, and most cases may not be genetic. Dystonia may also form part of other more general degenerative brain disorders. Dopamine-responsive dystonia, due to a specific molecular defect, is an important, treatable form to recognise, even though it is very rare.
Kidney and Urinary Bladder
Published in Victor A. Bernstam, Pocket Guide to GENE LEVEL DIAGNOSTICS in Clinical Practice, 2019
Underrepresentation of chromosome 9 in comparison to chromosomes 1,7, and 11 correlates with tumor progression. ISH can be used in routine evaluation of cytogenetic changes occurring during the development of a malignant disease.
Clinical Theory and Skills EMIs
Published in Michael Reilly, Bangaru Raju, Extended Matching Items for the MRCPsych Part 1, 2018
Chromosome 2.Chromosome 6.Chromosome 9.Cognitive impairment.Generalised anxiety disorder.Major depressive episode.Manic episode.Rapidly progressive dementia.Sensorimotor impairment.Slowly progressive dementia.
Optimizing outcomes and managing adverse events in locally advanced or metastatic urothelial cancer: a clinical pharmacology perspective
Published in Expert Review of Clinical Pharmacology, 2023
Pratap Singh, Anand Rotte, Anthony A. Golsorkhi, Sandhya Girish
BC is commonly associated with mutations and is one of the most frequently mutated type of cancer with a median of approximately 8 mutations/megabase [13,14], possibly due to its association with smoking and other carcinogens. The most common mutation seen in bladder cancer patients (over 70%) is in the promoter of the gene encoding telomerase reverse transcriptase (TERT), resulting in upregulation of telomerase expression and allows the cells to escape senescence [15–17]. TERT mutations are seen in nearly 60% of in situ tumors indicating that the TERT mutations usually occur in the early stages of BC development [18]. Fibroblast growth factor receptor (FGFR3) is the second most common mutation seen in patients with bladder cancer (about 10–20%), resulting in ligand-independent dimerization and activation of the receptor [15]. Other common genetic mutations seen in BC patients include RAS gene mutations and PIK3CA mutations affecting the RAS-MAPK pathways and KDM6A mutations affecting the histone modification pathways [15,16]. In addition, chromosome 9 deletions including loss of long arm (9q) and loss of short arm (9p) are seen in about 50% of the BC tumors [15].
Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication
Published in Ophthalmic Genetics, 2020
Kai Ching Peter Leung, Tak Chuen Simon Ko
Microphthalmia, anophthalmia, coloboma (MAC) complex is a spectrum of ocular abnormalities that occur in isolation or as part of a syndrome (1). Microphthalmia is defined as a small globe where the total axial length is less than at least 2 standard deviations (SD) corrected to age (2,3). The anterior segment axial length (ASL) is usually within or below normal range whereas the posterior segment axial length (PSL) is uniformly reduced at 2 SD below mean for age (2). Anophthalmia is defined as a complete absence of the globe in the presence of adnexa. Coloboma is referred to defects within the ocular structures that arise as a result of incomplete fusion of optic fissure, situated inferior-nasally from the optic disc, extending through the choroidal-retinal tissue, ciliary body, lens zonules, iris, and lids. Approximately 80% of individuals with bilateral anophthalmia or severe microphthalmia have an identifiable genetic abnormality, where 25–30% were attributed to chromosomal defects in this subset of MAC patients (4–6). Chromosome 9 short arm (9p) abnormalities have not been shown to associate with development of MAC previously. We report the first case of MAC spectrum disorder that is related to 9p deletion and duplication.
Discriminant Analysis of Lung Cancer Using Nonlinear Clustering of Copy Numbers
Published in Cancer Investigation, 2020
Nezamoddin N. Kachouie, Meshal Shutaywi, David C. Christiani
Chromosome 9, 6, 4, 13, and 21 are bottom 5 chromosomes in Table 3 based on their discriminant power in identifying cancer in our study. These chromosomes yield accuracy below 54% and associated NMI below 0.005. NMI value of close to zero indicates that about 50% of samples are clustered in right groups which agree with the accuracy of below 54%. Figures 2 and 3 (left column) show true cancer and normal clusters illustrated using copy numbers of chromosome 6 and 9, respectively (i.e. bottom two chromosomes in Table 3). As we can see in Figures 2 and 3 (left column), cancer and normal clusters are overlapping. This reveals the similarity of copy numbers of cancer and normal samples of these chromosomes and can explain the low accuracy that is yielded to discriminate cancer from normal using copy numbers of these chromosomes. As we can see in Table 2, cancer and normal samples are evenly spliced in the identified cancer and normal clusters by chromosome 9 where cancer group contains 33 cancer (true positive) and 31 normal (false positive) samples, and normal group contains 32 normal (true negative) and 30 cancer (false negative) samples.