Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12104/43051
Title: Clinical and genetic heterogeneity in patients with mosaic variegated aneuploidy: Delineation of clinical subtypes
Author: Goyeneche, D.
Romero, J.L.
Klimov, Andrei B.
Issue Date: 2014
Abstract: We present a new parametrization of families of complex Hadamard matrices stemming from the Fourier matrices in every prime power dimension. We connect continuous Abelian groups with families of complex Hadamard matrices and conjecture that the constructed families are maximal. Also, we derive new relations for complex Hadamard matrices in every prime power dimension and prove that some real Hadamard matrices can be written as a product of an arbitrarily large number of real Hadamard matrices. " 2014 Springer Science+Business Media New York.",,,,,,"10.1007/s10946-014-9400-0",,,"http://hdl.handle.net/20.500.12104/43051","http://www.scopus.com/inward/record.url?eid=2-s2.0-84897581066&partnerID=40&md5=22f87ce8b9e805de8ab0bb89f09a5ad5",,,,,,"1",,"Journal of Russian Laser Research",,"56
61",,"35",,"Scopus
WOS",,,,,,"Abelian groups; affine families; complex Hadamard matrices",,,,,,"Nested Construction of Families of Complex Hadamard Matrices",,"Article" "41891","123456789/35008",,"García-Castillo, H., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Vásquez-Velásquez, A.I., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico; Rivera, H., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico; Barros-Núñez, P., División de Genética, Centro de Investigación Biomédica de Occidente, IMSS, Guadalajara, Mexico, Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico, Centro de Investigación Biomédica de Occidente, IMSS, Sierra Mojada 800, Col. Independencia, C.P. 44340 Guadalajara, Mexico",,"García-Castillo, H.
Vasquez-Velasquez, A.I.
Rivera, H.
Barros-Nunez, P.",,"2008",,"Mosaic variegated aneuploidy (MVA) is a rare autosomal recessive syndrome related to BUB1B gene mutations and characterized by multiple mosaic aneuploidies, cancer predisposition, and a distinct phenotype. We report on two mildly affected sibs with MVA syndrome but without BUB1B mutation. Both patients exhibited growth retardation, frontal bossing, triangular face and micrognathia but not microcephaly or cancer. Aneuploidies were assessed both in G-banded metaphases from lymphocyte cultures and in interphase nuclei from buccal cells by FISH. Screening of 23 exons and intron-exon boundaries of BUB1B was also carried out. These patients were then compared with other 19 MVA patients screened for BUB1B mutations. Around one half of the cultured lymphocytes from our patients had aneuploidies ranging from nullisomies to heptasomies; the most frequent abnormalities were trisomies (42%) and monosomies (28%). FISH results demonstrated more chromosomal losses than gains. Screening of BUB1B in our two patients failed to identify any mutation. A review of the 21/35 patients screened for BUB1B demonstrated three clinical pictures. Patients with monoallelic BUB1B mutations were severely affected with Dandy-Walker complex (7/8), cataracts (6/6), and Wilms' tumor (7/8); premature chromatid separation (PCS) was observed in 8/8 propositi and 7/7 carrier parents. Patients without BUB1B mutations were mildly affected with no evidence of cancer, Dandy-Walker malformation or cataract, and rarely (1/7) showed PCS. Finally, patients with biallelic BUB1B mutations showed a moderate phenotype. The distinct MVA clinical groups delineated here point to involvement of at least another mitotic spindle checkpoint gene in addition to the BUB1B gene. " 2008 Wiley-Liss, Inc.
URI: http://hdl.handle.net/20.500.12104/40112
http://www.scopus.com/inward/record.url?eid=2-s2.0-47149116650&partnerID=40&md5=af432be7164aab9bba6210f4eea89755
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