Results 211 to 220 of about 43,589 (247)

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

American Journal of Medical Genetics Part A, 2003
AbstractPartial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Instead of trisomy 12q that has been reported as a clinically identifiable syndrome, monosomy 12p is characterized by a wide phenotypic spectrum. We report two cousins suffering from severe mental retardation, seizures, and dysmorphic features related to a trisomy ...
Clotilde, Lagier-Tourenne, E, Ginglinger, Y, Alembik, A, De Saint Martin, M O, Peter, P, Dulucq, P, Jonveaux, E, Jeandidier   +7 more
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Possible Partial Trisomy of a Chromosome of Group 6‐X‐12 and Familial Translocation Heterozygosity in a Child with Congenital Abnormalities

Developmental Medicine & Child Neurology, 1967
SUMMARYIn the child reported, congenital abnormalities were associated with partial trisomy of a chromosome of group 6‐X‐12. A translocation involving part of a group 6‐X‐12 chromosome and a group 13–15 chromosome is present in the patient's clinically normal father and sister.RÉSUMÉUne trisomie partielle possible d'un chromosome du groupe 6‐X‐12 el ...
M K, Jensen, J C, Melchior
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Different distribution of NOTCH1 mutations in chronic lymphocytic leukemia with isolated trisomy 12 or associated with other chromosomal alterations

Genes, Chromosomes and Cancer, 2012
AbstractChronic lymphocytic leukemia (CLL) is the most common leukemia among adults in Western countries. Chromosomal abnormalities commonly found using conventional cytogenetics and FISH are del(11)(q22‐23), trisomy 12, del(13)(q14), and del(17)(p13). Trisomy 12 is the most frequent numerical abnormality in CLL.
Cristina, López, Julio, Delgado, Dolors, Costa, Laura, Conde, Gabriela, Ghita, Neus, Villamor, Alba, Navarro, Maite, Cazorla, Cándida, Gómez, Amparo, Arias, Concha, Muñoz, Tycho, Baumann, María, Rozman, Marta, Aymerich, Dolors, Colomer, Francesc, Cobo, Elías, Campo, Armando, López-Guillermo, Emili, Montserrat, Ana, Carrió   +19 more
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Deletion of chromosome 13 (band ql4) but not trisomy 12 is a clonal event in B‐chronic lymphocytic leukaemia (CLL)

British Journal of Haematology, 1995
Summary. Chromosomal abnormalities are detected by conventional cytogenetic or FISH analysis in 50% of chronic lymphocytic leukaemias (CLL). Trisomy 12 and del 13ql4 account for 70% of these abnormalities. The incidence of these two abnormalities was studied in CLL patients by Southern blot analysis using a highly purified B‐cell malignant population (
SHIREEN A.B. JABBAR, KANAGASABAI GANESHAGURU, RANMOHAN G. WICKREMASINGHE, A. VICTOR HOFFBRANU, LETIZIA FORONI   +4 more
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Diffuse Large B-Cell Lymphoma of the Stomach: Assessment of Microsatellite Instability, Allelic Imbalance, and Trisomy of Chromosomes 3, 12, and 18

Diagnostic Molecular Pathology, 2002
Several types of genetic aberrations including microsatellite instability (MSI), allelic imbalance (AI), and chromosomal trisomies have been reported in low-grade (LG) mucosa-associated lymphoid tissue (MALT)-type gastric lymphomas. Presence of such genetic alterations could be a discriminator between de novo large cell lymphoma and high-grade (HG ...
Marek, Skacel, Pamela L, Paris, James D, Pettay, Evangelos K, Tsiftsakis, Raymond R, Tubbs, Graham, Casey, Eric D, Hsi   +6 more
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Clonal expansion of cells with trisomy of chromosomes 12 and X in an EBV-transformed lymphoblastoid cell line and establishment of a tumorigenic monoclonal cell line (48, XX,+X,+12)

Cytogenetic and Genome Research, 1993
Clonal expansion of cells with a certain abnormal chromosome constitution has been demonstrated in EBV-transformed lymphoblastoid cell lines, and a new monoclonal tumorigenic cell line (48, XX,+X,+12) has been established. Based on these data and our previous hypothesis that predisposition to tumor development could be associated with inherited ...
S, Risin, T, Fujimaki, C A, Mestriner, N M, Brown, V L, Hopwood, I J, Fidler, S, Pathak   +6 more
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A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: Clinical, cytogenetic and molecular observations

European Journal of Medical Genetics, 2007
Partial trisomy 12q and monosomy 12p lead to multiple malformation syndromes. Only four cases were previously reported with the association of these two aneusomies resulting from a familial pericentric inversion of chromosome 12. We report on the clinical, cytogenetic and molecular findings in a boy with an unbalanced karyotype which resulted from a ...
Alicia, Vaglio, Aubrey, Milunsky, Xin-Li, Huang, Andrea, Quadrelli, Búrix, Mechoso, Roberto, Quadrelli   +5 more
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In B-cell chronic lymphocytic leukaemia chromosome 17 abnormalities and not trisomy 12 are the single most important cytogenetic abnormalities for the prognosis: A cytogenetic and immunophenotypic study of 480 unselected newly diagnosed patients

Leukemia Research, 1997
Of 560 consecutive, newly diagnosed untreated patients with B CLL submitted for chromosome study, G-banded karyotypes could be obtained in 480 cases (86%). Of these, 345 (72%) had normal karyotypes and 135 (28%) had clonal chromosome abnormalities: trisomy 12 (+12) was found in 40 cases, 20 as +12 alone (+12single), 20 as +12 with additional ...
C H, Geisler, P, Philip, B E, Christensen, K, Hou-Jensen, N T, Pedersen, O M, Jensen, K, Thorling, E, Andersen, H S, Birgens, A, Drivsholm, J, Ellegaard, J K, Larsen, T, Plesner, P, Brown, P K, Andersen, M M, Hansen   +15 more
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Coexisting trisomies of chromosomes 12 and 19 define a cytogenetic subgroup of IgG+ CLL enriched for BIRC3 mutations

Blood
Abstract Introduction: Coexisting trisomies of chromosomes 12 and 19 define a cytogenetic subgroup of CLL (+12+19 CLL) with shared clinicobiological characteristics. +12+19 CLL cases often (~70%) also carry trisomy 18; most cases (~85%) are CD38+ with high percentages of CD38+ cells; all cases
Marina Gerousi, Antonia-Zoe Kouroutzidou, Anastasia Iatrou, Viktor Ljungstrom, Anastasia Anastasiadou, Stamatia Laidou, Nikolaos Pechlivanis, Julie Dubois, Anna Puiggros, Karla Plevova, Thomas Chatzikonstantinou, Nikolaos Vastarouchas, Riccardo Moia, Zadie Davis, Xiao Yan, Miguel Alcoceba, Blanca Ferrer Lores, Rocio Salgado, Rosa Collado, Anastasia Athanasiadou, Niki Stavrogianni, Nicholas Chiorazzi, Renata Walewska, Fotis Psomopoulos, Gianluca Gaidano, Sarka Pospisilova, David Oscier, Paolo Ghia, Blanca Espinet, Arnon Kater, Richard Rosenquist, Anastasia Chatzidimitriou, Panagiotis Baliakas, Kostas Stamatopoulos   +33 more
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Deletion of chromosome 13 (band q14) but not trisomy 12 is a clonal event in B-chronic lymphocytic leukaemia (CLL).

British journal of haematology, 1995
Chromosomal abnormalities are detected by conventional cytogenetic or FISH analysis in 50% of chronic lymphocytic leukaemias (CLL). Trisomy 12 and del 13q14 account for 70% of these abnormalities. The incidence of these two abnormalities was studied in CLL patients by Southern blot analysis using a highly purified B-cell malignant population (CD5 > 95%,
S A, Jabbar, K, Ganeshaguru, R G, Wickremasinghe, A V, Hoffbrand, L, Foroni   +4 more
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