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De Novo Duplication of Chromosome 7 (q21.1-q32); Case Report and Review of the Literature

References Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P. Partial Trisomy of 7q: case report and literature review. J Child Neurol 2008; 23(5): 572-579. Couzin DA, Haites N, Watt JL, Johnston AW. Partial trisomy 7 (q32-qter) syndrome in two children. J Med Genet 1986; 23(5): 461-465. Lukusa T, Fryns JP. Syndrome of facial, oral, and digital anomalies due to 7q21.2→q22.1 duplication. Am J Med Genet 1998; 80(5): 454-458. Lukusa T, Van Buggenhout G

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Electricity Supply and Economic Diversification in Nigeria (1981-2016)

Abstract

The study examined the impact of electricity supply on economic diversification in Nigeria, using time series data from 1981 to 2016. The study employed descriptive analysis and Autoregressive Distributed Lag (ARDL) techniques. The Augmented Dickey-Fuller unit root test showed that the variables are integrated of different orders.

The result from the Bounds co-integration test to show the presence of a long-run relationship among the variables was inconclusive. The short run (ARDL) model, however, indicated a positive insignificant relationship between electricity supply and economic diversification in Nigeria. The findings of the study revealed that the electricity supply had not played a fundamental role in enhancing economic diversification in Nigeria.

The study, therefore, recommended that for Nigeria to drive economic diversification through electricity supply, the government should fix the electricity supply problem which can be achieved by short-term action to reduce technical faults through maintenance of the transmission and distribution infrastructure or long-term interventions to expand generating capacity.

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Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas

Chromosomal Abnormalities in Endometrial and Ovarian Carcinomas

Development and progression of human malignancies involve multiple genetic changes including chromosomal instabilities such as translocations, deletions, and inversions. Chromosomal abnormalities were observed in 23 cases with ovarian and endometrial cancer by cytogenetic studies using a GTG (G bands by trypsin using Giemsa) banding technique. Specific chromosome bands were frequently involved, and were most frequent on chromosomes 1, 2, 3, 5, 12 and 17. Clonal alterations were observed at the cancer breakpoints, such as 1q21, 1q32, 3p21, 7q22, 11q23 in ovarian and 1p36, 1q32, 2p12, 3p21, 7q22, 9q34, 11p15, 11q23, 12q13, 14q11, 14q32, 16p13, 21q22 in endometrial cases. These findings provide evidence that multiple genetic lesions are associated with the pathogenesis of endometrial and ovarian cancer.

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FISH in Burkitt lymphoma diagnosis: a single Romanian center experience

Abstract

The goal of this study, part of the PERSOTHER project, is the implementation a new ancillary technique - fluorescent in situ hybridization (FISH) - in Burkitt lymphoma (BL) diagnosis, for the first time in our country. BL is a B-cell lymphoma with a highly aggressive clinical course. Three clinical variants of BL are recognized: endemic BL (in equatorial Africa), sporadic (throughout the world) and immunodeficiency-associated BL. The 2008 World Health Organization (WHO) Classification described a new category of B-cell lymphoma, unclassifiable, with intermediate features between diffuse large B-cell lymphoma (DLBCL) and BL. Because the treatment of BL is very aggressive, with high doses chemotherapy, an accurate diagnosis is required. Cytology, morphology and immunophenotype (CD20+, CD10+, BCL6+, BCL2-, Ki67 98-100%) are typical for BL. Most of the cases have MYC translocation at band 8q24 to the IgH region, 14q32. The demonstration of MYC translocation is necessary for BL diagnosis and differential with DLBCL and borderline cases. 22 cases of BL were evaluated by FISH for MYC translocation. 17 cases were positive, one case was negative and 4 cases were inconclusive. The results are concordant with the literature: the authors report about 10% MYC negative cases. In this cases micro-RNA (MiRNA-s) alterations may be implicated. The present study highlights the importance of FISH in BL diagnosis. It also identifies some of the technical difficulties of this method and it represents a basis for future routine diagnosis of selected BL cases.

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Clinical and laboratory diagnosis of spinocerebellar ataxia type 3 in a large Chinese family

at chromosome 14q32.1. Nat Genet. 1994; 8:221-8. 9. Paulson HL. The spinocerebellar ataxias. J Neuroophthalmol. 2009; 29:227-37. 10. Riess O, Rub U, Pastore A, Bauer P and Schols L. SCA3: neurological features, pathogenesis and animal models. Cerebellum. 2008; 7:125-37. 11. Tallaksen CM. Hereditary ataxias. Tidsskr Nor Laegeforen. 2008; 128:1977-80. 12. Jiang H, Tang BS, Xu B, Zhao GH, Shen L, Tang JG, et al. Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients

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Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

, Armendares S. A patient with 44 chromosomes. Ann Genet. 1985; 28(2): 130-132. Annerén G, Frykberg T, Gustavson KH. A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p. Clin Genet. 1981; 20(4): 289-295. Kondo I, Hamaguchi H, Matsuura A, Nakajima H, Koyama A, Takita H. A case of Turner's syndrome with familial balanced translocation t(1;2)(q32;q21)mat. J Med Genet. 1979; 16(4): 321-323. Lejeune J, Lafourcade

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The Largest Paracentric Inversion, The Highest Rate Of Recombinant Spermatozoa. Case Report: 46,Xy, Inv(2)(Q21.2Q37.3) And Literature Review

analysis of meiotic recombination in humans by use of sperm typing: Reduced recombination within a heterozygous paracentric inversion of chromosome 9q32-q34.3. Am J Hum Genet. 1998; 62(6): 1484-1492. 13. Martin RH. Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 14 (q24.1q32.1). Am J Hum Genet. 1999; 64(5): 1480-1484. 14. Devine DH, Whitman-Elia G, Best RG, Edwards JG. Paternal paracentric inversion of chromosome 2: A possible association with recurrent pregnancy loss and infertility. J Assist

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Exploring Candidate Genes for Epilepsy by Computational Disease-Gene Identification Strategy

, Rosenbaum D, Kang H, Ballaban-Gil K, Hertz S, Labar DR, Luciano D, Wallace S, Yohai D, Klotz I, Dicker E, Greenberg DA. Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type. Ann Neurol. 2001; 3(3): 328-335. Pinto D, Westland B, de Haan GJ, Rudolf G, da Silva BM, Hirsch E, Lindhout D, Trenité DG, Koeleman BP. Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13. Hum Mol

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Alpha 1-atitrypsin deficiency: from genetic routes to bedside

-396. Brantly, M.L., Wittes, J.T., Vogelmeier, C.F., Hubbard, R.C., Fells, G.A. (1991). Use of a highly purified alpha 1-antitrypsin standard to establish ranges for the common normal and deficient alpha 1-antitrypsin pheno-types. Chest.   100 (3), 703-708. Byth, B.C., Billingsley, G.D., Cox, D.W. (1994). Physical and genetic mapping of the serpin gene cluster at 14q32.1: Allelic association and a unique haplotype associated with alpha 1-antitrypsin deficiency. Amer. J. Hum. Genet. , 55 , 126-133. Callea, F., Gregorini, G

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Nowe terapie w leczeniu szpiczaka z wysokim ryzykiem cytogenetycznym

) i OS (mediana 33,7 vs 70,7 miesiąca) [ 7 ]. Tabela III Klasyfikacja molekularna i cytogenetyczna szpiczaka według IMWG Table III. Molecular and cytogenetic classification of myeloma according to IMWG Postać szpiczaka Odsetek chorych Cechy kliniczne i laboratoryjne Z hiperploidią 45% Zmiana bardziej korzystna, IgG-κ, starsi pacjenci Bez hiperploidii 40% Postać bardziej agresywna, IgA-λ, młodsi pacjenci 1. Translokacja w genie cykliny D 18% t(11;14)(q13;q32) 16% Zwiększenie ekspresji genu CCND1 , lepsze

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