Citations with the tag: TRISOMY
Results 1 - 50
- Pre-weaning Sensorial and Motor Development in Mice Transpolygenic for the Critical Region of Trisomy 21.
Roubertoux, Pierre L.; Bichler, Zo�; Pinoteau, Walter; Jamon, Marc; S�r�gaza, Zohra; Smith, Desmond J.; Rubin, Edward; Migliore-Samour, Dani�le // Behavior Genetics; May2006, Vol. 36 Issue 3, p470
A correction to the article "Pre-weaning Sensorial and Motor Development in Mice Transpolygenic for the Critical Region Trisomy 21" that was published in the May 5, 2006 issue was presented.
- Meiotic origin of trisomy in neoplasms: evidence in a case of erythroleukaemia.
Minelli, A; Morerio, C; Maserati, E; Olivieri, C; Panarello, C; Bonvini, L; Leszl, A; Rosanda, C; Lanino, E; Danesino, C; Pasquali, F // Leukemia (08876924); Jun2001, Vol. 15 Issue 6, p971
Trisomic cells in neoplasms may represent abnormal clones originated from a tissue-confined mosaicism, and arise therefore by a meiotic error. We report on a 16-month-old child with erythroleukaemia (AML-M6), whose marrow karyotype at onset was 48,XX,del(13)(q12q14),del(14)(q22q32),+21,+21. The...
- Mosaic trisomy 17 in amniocytes: phenotypic outcome, tissue distribution, and uniparental disomy studies.
Genuardi, Maurizio; Tozzi, Carla; Pomponi, Maria Grazia; Stagni, Maria Letizia; Della Monica, Matteo; Scarano, Gioacchino; Calvieri, Fabrizio; Torrisi, Loredana; Neri, Giovanni // European Journal of Human Genetics; May99, Vol. 7 Issue 4, p421
Mosaicism for trisomy 17 in amniocyte cultures is a rare finding, whilst postnatal cases are exceptional. In order to gain insight into the possible effects of the distribution of the trisomic line and of uniparental disomy (UPD) on embryofoetal development, we have performed follow-up clinical,...
- Trisomy 10p With Clinical Features of Facio- auriculo- vertebral Spectrum: A Case Report.
Dabir, Tabib; Morrison, P.; Woods, P. // Journal of Medical Genetics; Sep2005, Vol. 42, pS45
Presents an abstract of the article "Trisomy 10p With Clinical Features of Facio- auriculo- vertebral Spectrum: A Case Report," by Tabib Dabir, P. Morrison and P. Woods.
- Trisomy 12 CLLs progress through NOTCH1 mutations.
Balatti, V; Lerner, S; Rizzotto, L; Rassenti, L Z; Bottoni, A; Palamarchuk, A; Cascione, L; Alder, H; Keating, M J; Kipps, T J; Pekarsky, Y; Croce, C M // Leukemia (08876924); Mar2013, Vol. 27 Issue 3, p740
A letter to the editor is presented in response to the article "Trisomy 12 CLLs progress through NOTCH1 mutations" published in a previous issue.
Balatti, V; Lerner, S; Rizzotto, L; Rassenti, L Z; Bottoni, A; Palamarchuk, A; Cascione, L; Alder, H; Keating, M J; Kipps, T J; Pekarsky, Y; Croce, C M // Archives of Disease in Childhood; Apr2007, Vol. 92 Issue 4, p375
A correction to the article "Trisomy 13 is associated with anorectal malformations" is presented.
Schlegel, Rolf H. J. // Encyclopedic Dictionary of Plant Breeding & Related Subjects; 2003, p32
A definition of the term "anisotrisomic," which refers to a mixture of seeds or individuals that are not trisomic, is presented.
- isotelocompensating trisomic:.
Schlegel, Rolf H. J. // Encyclopedic Dictionary of Plant Breeding & Related Subjects; 2003, p238
A definition of the term "isotelocompensating trisomic" is presented.
- isotertiary compensating trisomic:.
Schlegel, Rolf H. J. // Encyclopedic Dictionary of Plant Breeding & Related Subjects; 2003, p238
A definition of the term "isotertiary compensating trisomic" is presented.
Schlegel, Rolf H. J. // Encyclopedic Dictionary of Plant Breeding & Related Subjects; 2003, p239
A definition of the term "isotrisomic" is presented.
- An unusual presentation of trisomy 9p syndrome with a partial Dandy-Walker malformation.
Hannam, S.; Greenough, A.; Dawson, J. M. // European Journal of Pediatrics; 1999, Vol. 158 Issue 12, p1012
Reports on a clinical case of a child with trisomy 9p syndrome. Description of the patient; Clinical features associated with trisomy 9p syndrome; Presence of a partial Dandy-Walker malformation with a possible cyst in the cisterna magna and abnormal development of the limbic system.
- FISH analysis for BCL-1 rearrangements and trisomy 12 helps the diagnosis of atypical B cell leukaemias.
Matutes, E; Carrara, P; Coignet, L; Brito-Babapulle, V; Villamor, N; Wotherspoon, A; Catovsky, D // Leukemia (08876924); Nov99, Vol. 13 Issue 11, p1721
We have investigated the diagnostic value of fluorescence in situ hybridisation (FISH) to detect t(11;14) and trisomy 12 in 53 cases with a B cell leukaemia difficult to classify on clinical and laboratory grounds. These cases were initially diagnosed by morphology and immunophenotype and in 33...
- Gross motor development of a 7-year-old girl with trisomy 18.
Woldorf, Julia W.; Johnson, Kathleen // Clinical Pediatrics; Feb94, Vol. 33 Issue 2, p120
Focuses on the gross motor skill development of a seven-year-old girl with trisomy 18. Trisomy's association with cardiovascular and skeletal malformations; Patient report; Importance of referring infants with trisomy 18 to early intervention programs and therapy.
- Maize Tertiary Trisomic Stocks Derived From B-A Translocations.
Auger, D.L.; Birchler, J.A. // Journal of Heredity; Jan/Feb2002, Vol. 93 Issue 1, p42
Focuses on a study which described a collection of B-A tertiary trisomic chromosome. Materials and methodology; List of stocks trisomic for B-A chromosomes; Transmission of B-A chromosomes in tertiary trisomy.
Hardy, Steve; McCarthy, Jane // Advances in Mental Health & Intellectual Disabilities; May2011, Vol. 5 Issue 3, p4
An introduction is presented in which the editor discusses various reports within the issue on topics related to mental health which include working with people with intellectual disabilities with regards to violence, the referrals made by an intellectual disability team to one community mental...
- Evidence from skewed X inactivation for trisomy mosaicism in Silver-Russell syndrome.
Sharp, Andrew; Moore, Gudrun; Eggermann, Thomas // European Journal of Human Genetics; Dec2001, Vol. 9 Issue 12, p887
The finding of maternal uniparental disomy for chromosome 7 (matUPD7) in approximately 7% of Silver-Russell syndrome (SRS) cases has lead to the assumption that imprinted gene(s) on chromosome 7 are responsible for at least some cases. However, the observation in a familial case that both...
- Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: clinical, cytogenetic and molecular analysis.
Velissariou, Voula; Antoniadi, Thalia; Gyftodimou, Jolanda; Bakou, Katerina; Grigoriadou, Maria; Christopoulou, Stavroula; Hatzipouliou, Athina; Donoghue, Jackie; Karatzis, Panagiotis; Katsarou, Efstathia; Petersen, Michael B // European Journal of Human Genetics; Nov2002, Vol. 10 Issue 11, p694
The clinical significance of trisomy 20 mosaicism detected prenatally remains uncertain due to the rarity of liveborn cases with inconsistent clinical findings, and lack of long-term follow-up and outcome. We describe a case of true trisomy 20 mosaicism in a liveborn girl with maternal...
- Tertiary trisomics in the garden pea as a model of B chromosome evolution in plants.
Berdnikov, V.A.; Gorel, F.L.; Kosterin, O.E.; Bogdanova, V.S. // Heredity; Dec2003, Vol. 91 Issue 6, p577
It is hypothesized that, in plants, genetically empty B chromosomes may originate from the extra chromosome (E) of tertiary trisomics if (i) the region of basic chromosomes homologous to the E (H-region) harbors a sporophytic lethal covered by the wild-type allele in E, and (ii) crossing-over...
- Sole acquired trisomy 21 in a case of CD7 and CD10 positive acute myeloid leukemia.
Naithani, R.; Singhal, D.; Kumar, R.; Raina, V.; Saxena, R.; Anand, H. // Indian Journal of Cancer; Jul-Sep2008, Vol. 45 Issue 3, p132
A letter to the editor is presented on a case of a 52-year-old lady with sole acquired trisomy 21 in a case of CD& and CD10 positive acute myeloid leukemia.
- A patient with partial chromosome 16 trisomy mosaicism.
Naithani, R.; Singhal, D.; Kumar, R.; Raina, V.; Saxena, R.; Anand, H. // Journal of Medical Genetics; Sep2007 Supplement 1, Vol. 44, pS63
An abstract of the study "A patient with partial chromosome 16 trisomy mosaicism," by Kristiina Avela, J. Kirjavainen, S. Knuutila and R. Salonen is presented.
- Partial trisomy 13: A case report, verification of the phenotype and review of the literature.
Naithani, R.; Singhal, D.; Kumar, R.; Raina, V.; Saxena, R.; Anand, H. // Journal of Medical Genetics; Sep2007 Supplement 1, Vol. 44, pS105
An abstract of the study "Partial trisomy 13: A case report, verification of the phenotype and review of the literature" is presented.
- Special issue on structural genomiC alterations: ready for prime time.
Polychronakos, Constantin // Journal of Medical Genetics; May2011, Vol. 48 Issue 5, p289
The article discusses various reports published within the issue including Stephen Scherer on the pericentromeric euchromatic variant on chromosome 9, Daryl Scott on the causes of isolated or syndromic diaphragmatic hernia and Johns Hopkins on parental origin and mechanism of mosaic trisomy.
- Trisomy 13 is associated with anorectal malformations.
Lewis, Nicola A.; Lander, Anthony D. // Archives of Disease in Childhood; Feb2007, Vol. 92 Issue 2, p185
A letter to the editor regarding Trisomy 13 or Patau's syndrome among babies is presented.
- Pure partial 7p trisomy including the TWIST, HOXA, and GLI3 genes.
M�garban�, A.; Le Lorc'h, M.; Elghezal, H.; Joly, G.; Gosset, P.; Souraty, N.; Samaras, L.; Prieur, M.; Vekemans, M.; Turleau, C.; Romana, S. P. // Journal of Medical Genetics; Mar2001, Vol. 38 Issue 3, p178
Presents a letter to the editor about a case if 7p chromosomal trisomy.
- Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: further delineation of the pure 1q trisomy syndrome.
van Haelst, M.M.; Eussen, H.J.F.M.M.; Visscher, F.; de Ruijter, J.L.M.; Drop, S.L.S.; Lindhout, D.; Wouters, C.H.; Govaerts, L.C.P. // Journal of Medical Genetics; Aug2002, Vol. 39 Issue 8, p582
Studies the Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1. Delineation of the pure 1q trisomy syndrome; Analysis of pertinent topics and relevant issues; Theoretical significance to medical genetics.
- An apparent false negative result for trisomy 13 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells.
Delmege, David; Beck, J.; Wragg, C.; Van den Klundert, W. // Journal of Medical Genetics; Sep2003 Supplement, Vol. 40, pS59
An amniocentesis was performed on a 16 week pregnancy following maternal serum screening indicating a 1:140 risk of trisomy 21. A rapid aneuploid screen using fluorescence in situ hybridisation revealed a signal pattern consistent with 2 copies of chromosomes 13, 18 21 and X. Cytogenetic...
- A family with overgrowth associated with partial trisomy 15q.
Delmege, David; Beck, J.; Wragg, C.; Van den Klundert, W. // Journal of Medical Genetics; Sep2006 Supplement, Vol. 43, pS52
An abstract of the article "A family with overgrowth associated with partial trisomy 15q," by Katrina Tatton Brown, J. Barber, C. Donaghue, V. K. Maloney, K. Marks, S. Tomkins, P. Waits, N. Rahman and M. McEntagart is presented.
- Validation of ELUCIGENE QST*R, a QF-PCR Assay.
Delmege, David; Beck, J.; Wragg, C.; Van den Klundert, W. // Journal of Medical Genetics; Sep2006 Supplement, Vol. 43, pS102
An abstract of the article "Validation of ELUCIGENE QST*R, a QF-PCR Assay," by Scott Higgins, C. Stay, N. Duxbury, and C. Smit is presented.
- Brain-Only Partial Trisomy 1 & Epileptic Disorder.
Breindl, Anette // BioWorld Today; 4/16/2012, Vol. 23 Issue 73, Special section p2
The article reports on a study which found a trisomy of the long arm of chromosome 1 in hemimegalencephaly patients.
- Edwards' syndrome.
Breindl, Anette // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p727
An encyclopedia entry for "Edwards' syndrome," which pertains to trisomy 18, is presented.
- patau syndrome.
Breindl, Anette // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p1718
An encyclopedia entry for the medical term "patau syndrome," which refers to Trisomy 13, is presented.
- Clonal Ph-negative hematopoiesis in CML after therapy with imatinib mesylate is frequently characterized by trisomy 8.
Breindl, Anette // Leukemia (08876924); Jul2002, Vol. 16 Issue 7, p1390
Reports on a research study which claims that clonal ph-negative hematopoiesis in chronic myeloid leukemia (CML) after therapy with imatinib mesylate is frequently characterized by trisomy 8. Characteristics of CML; Method of treating the condition.
- Describing new syndromes.
Breindl, Anette // British Medical Journal; 1/14/1978, Vol. 1 Issue 6105, p64
Studies the developmental abnormalities associated with Down's syndrome. Approach used in distinguishing complete and partial trisomy; Essence of intelligence levels, linear growth and craniofacial asymmetry in the delineation of a clinical entity; Complexity of measuring facial features of the...
- Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes.
Handyside, Alan H.; Harton, Gary L.; Mariani, Brian; Thornhill, Alan R.; Affara, Nabeel; Shaw, Marie-Anne; Griffin, Darren K. // Journal of Medical Genetics; Oct2010, Vol. 47 Issue 10, p1
The use of genome wide single nucleotide polymorphism (SNP) arrays for high resolution molecular cytogenetic analysis using a combination of quantitative and genotype analysis is well established. This study demonstrates that by Mendelian analysis of the SNP genotypes of the parents and a...
- Trisomy 9p with isochromosome 9p and radiological features of Larsen Syndrome.
Archer, Hayle; Stiff, R.; Little, E.; Thompson, P.; Davies, S.J. // Journal of Medical Genetics; Sep2003 Supplement, Vol. 40, pS41
There are many reports of trisomy 9p in the medical literature. However, only 4 cases have an isochromosome 9p. Bipartate calcanei have not previously been reported in association with trisomy 9p. We present an unusual case of trisomy 9p with an isochromosome 9p. Hyperextended knees and talipes...
- Partial trisomy 11 with mild phenotype due to spread of X-inactivation in an X;11 translocation.
Jones, June; Smith, G.; McKee, S.A. // Journal of Medical Genetics; Sep2003 Supplement, Vol. 40, pS55
We report on a newborn girl who presented with micrognathia and a wide cleft palate, but no other major dysmorphic features (birth weight 2.4kg at term+10). Chromosome analysis revealed an unbalanced 46,X,der(X)t(X;11)(p22.1;q13) karyotype. The resulting partial trisomy 11 for the region...
- Poster presentations: 2. Cytogenetics.
Jones, June; Smith, G.; McKee, S.A. // Journal of Medical Genetics; Sep2002 Supplement, Vol. 39, pS54
Discusses the abstract of the research paper entitled 'Novel applications of the QF-PCR trisomy assay in a cytogenetic laboratory,' by Kathy Mann and C. Mackie Ogilvie and presented during the British Human Genetics Conference at the University of York in England in September 2002.
- Dr. Down's Syndrome.
Gould, Stephen Jay // Natural History; Apr80, Vol. 89 Issue 4, p142
Comments on the use of the term Down's syndrome, Mongolian idiocy or Mongolism to describe trisomy-21. Racism in science; Racist association between Orientals and the physical manifestations of trisomy-21; Historical background on the creation of the term Down's syndrome for trisomy-21.
Gould, Stephen Jay // Taber's Cyclopedic Medical Dictionary (2009); 2009, Issue 21, p2378
A definition of the medical term "trisomy," which refers to having three homologous chromosomes instead of two per cell, is presented.
- Estimating meiotic chromosome pairing and recombination parameters in telocentric trisomics.
Sybenga, J.; Verhaar, H.; Botje, D. G. A. // Genome; Nov2007, Vol. 50 Issue 11, p1014
Telocentric trisomics (telotrisomics; one arm of a metacentric chromosome present in addition to two complete genomes) are used in theoretical studies of pairing affinities and chiasma formation in competitive situations and applied in genome analysis, gene localization, gene transfer, and...
- MPLW515L mutation in acute megakaryoblastic leukaemia.
Hussein, K.; Bock, O.; Theophile, K.; Schulz-Bischof, K.; Porwit, A.; Schlue, J.; Jonigk, D.; Kreipe, H. // Leukemia (08876924); May2009, Vol. 23 Issue 5, p852
The thrombopoietin receptor gene (MPL) is expressed in megakaryocytes and exhibits the gain of function point mutation W515K/L in ~5% of patients with primary myelofibrosis/idiopathic myelofibrosis (PMF) representing one subtype of the chronic myeloproliferative disorders (myeloproliferative...
- Differences in chromosome susceptibility to aneuploidy and survival to first trimester.
Munn�, Santiago; Bah�e, Muhterem; Sandalinas, Mireia; Escudero, Tom�s; M�rquez, Carmen; Velilla, Esther; Colls, Pere; Oter, Maria; Alikani, Mina; Cohen, Jacques // Reproductive BioMedicine Online; Jan2004, Vol. 8 Issue 1, p81
The purpose of this study was to find specific rates of aneuploidy in cleavage-stage embryos compared with first trimester data and to evaluate post-zygotic selection against aneuploidy. A total of 2058 embryos were analysed by flurorescence insitu hybridization (FISH), and specific aneuploidy...
- The Pallister-Killian syndrome in a child with rare karyotype�a diagnostic problem.
Smigiel, Robert; Pilch, Jacek; Makowska, Izabela; Busza, Halina; Slezak, Ryszard; Sasiadek, Maria // European Journal of Pediatrics; Sep2008, Vol. 167 Issue 9, p1063
The Pallister-Killian syndrome is a clinically recognizable syndrome, usually due to a tissue-specific mosaicism for a 12p isochromosome [i(12p)]. We report a rare case of Pallister-Killian syndrome with 12p mosaicism, tetrasomy/trisomy/disomy in fibroblasts and trisomy/disomy in lymphocytes....
- Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis.
Lalatta, Faustina; Quagliarini, Donatella; Folliero, Emanuela; Cavallari, Ugo; Gentilin, Barbara; Castorina, Pierangela; Forzano, Francesca; Forzano, Serena; Grosso, Enrico; Viassolo, Valeria; Naretto, Valeria; Gattone, Stefania; Ceriani, Florinda; Faravelli, Francesca; Gargantini, Luigi // European Journal of Pediatrics; Oct2010, Vol. 169 Issue 10, p1255
We report clinical and behavioural evaluation data in 42 Italian girls with triple X syndrome whose diagnosis was made prenatally between 1998 and 2006 in three Italian centres. At initial evaluation, reproductive and medical histories were collected. Clinical assessment of the child was...
- Trisomies and Triploidies in Hamster Embryos: Induction by Low-Pressure Hypoxia and pH Imbalances.
Shimada, Takamichi; Watanabe, Gentaro; Ingalls, Theodore H. // Archives of Environmental Health; Mar/Apr80, Vol. 35 Issue 2
Examines the production of trisomic and triploid embryos by mating hamster females. Involvement of maternal hydrogen ion concentration imbalances between ovulation and fertilization; Indication of differences of trisomies and triploidies in embryos; Causative factors of trisomy.
- Trisomy 8 Mosaicism Syndrome.
Kurtyka, Zuzanna E.; Krzykwa, Boguslawa; Piatkowska, Edyta; Radwan, Magdalena; Pietrzyk, Jacek J. // Clinical Pediatrics; Nov1988, Vol. 27 Issue 11, p557
The paper presents clinical manifestations and results of cytogenetic examination of two patients with trisomy 8 mosaicism syndrome. The findings confirm the extreme phenotype variability of this syndrome. Both the first patient, a mentally retarded child with multiple dysmorphic changes, and...
- Gene expression variation increase in trisomy 21 tissues.
Ching Yu Chou; Li Yu Liu; Chien Yu Chen; Cheng Hsein Tsai; Hsiao Lin Hwa; Li Yun Chang; Yi Shing Lin; Fon Jou Hsieh // Mammalian Genome; Jun2008, Vol. 19 Issue 6, p398
Congenital development disorders with variable severity occur in trisomy 21. However, how these phenotypic abnormalities develop with variations remains elusive. We hypothesize that the differences in euploid gene expression variation among trisomy 21 tissues are caused by the presence of an...
- Echogenic intracardiac focus: What does it mean, what should you tell your patient?
BROMLEY, BRYANN // Contemporary OB/GYN; Jun2009, Vol. 54 Issue 6, p48
The article offers information on echogenic intracardiac focus (EIF). It refers to a sonographic soft marker which can be used in identifying aneuploidy, particularly Down syndrome and trisomy 13. EIF has been observed in approximately 5% of second-trimester ultrasound examinations, prompting...
- Characteristics of t(8;21) acute myeloid leukemia (AML) with additional chromosomal abnormality: concomitant trisomy 4 may constitute a distinctive subtype of t(8;21) AML.
Nishii, K; Usui, E; Katayama, N; Lorenzo V, F; Nakase, K; Kobayashi, T; Miwa, H; Mizutani, M; Tanaka, I; Nasu, K; Dohy, H; Kyo, T; Taniwaki, M; Ueda, T; Kita, K; Shiku, H // Leukemia (08876924); Apr2003, Vol. 17 Issue 4, p731
t(8;21)(q22;q22) is the most frequently observed karyotypic abnormality associated with acute myeloid leukemia (AML), especially in FAB M2. Clinically, this type of AML often shows eosinophilia and has a high complete remission rate with conventional chemotherapy, t(8;21) AML is also frequently...
- AML1 overexpression and/or mutations should be checked in trisomy 21 patients with megakaryocytic leukemia.
Huret, J L; Leonard, C // Leukemia (08876924); Jul2003, Vol. 17 Issue 7, p1421
Reports that acute myloid leukemia 1 overexpression and mutations should be checked in trisomy 21 patients with megakaryoctic leukemia.