Results 201 to 210 of about 483,022 (266)

The impact of balanced reciprocal translocation - 46,XX,t(7;17) (p13;q24) probably involving the SOX9 gene in the in vitro fertilization with own oocytes evaluated by preimplantation genetic testing or donated oocytes. [PDF]

JBRA Assist Reprod, 2019
Peregrino PFM, Gomes A, Fujii M, Bonetti TCS, Riboldi M, Monteleone PAA.   +5 more
europepmc   +1 more source

Chromosome fusions shaped karyotype evolution and evolutionary relationships in the model family Brassicaceae. [PDF]

Nat Commun
Jiang X, Hu Q, Mei D, Li X, Xiang L, Al-Shehbaz IA, Song X, Liu J, Lysak MA, Sun P.   +9 more
europepmc   +1 more source

Optical genome mapping enhances cytogenetic analysis in recurrent miscarriage: confirmation of a suspected (1;10) chromosomal translocation. [PDF]

Mol Cytogenet
Del Águila MDM, Bernal M, Vílchez JR, Romero B, Castilla JA, Álvarez G, Clavero A, Poyatos A, Ruíz-Cabello F.   +8 more
europepmc   +1 more source

Detecting chromosomal rearrangements in boars using Hi-C. [PDF]

Anim Genet
Burden F, Rathje C, Ellis P, Holl J, Lewis CRG, Farré M.   +5 more
europepmc   +1 more source

Intratumoral heterogeneity of cancer driver genomic alterations in myxoid liposarcomas. [PDF]

Cancer
Schmid A, Eisenhardt AE, Bogner B, Runkel A, Lausch U, Pauli T, Antolini LN, Boneberg A, Kiefer J, Bronsert P, Boerries M, Eisenhardt SU, Braig D.   +12 more
europepmc   +1 more source

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Cytogenetic Elaboration of a Novel Reciprocal Translocation in Sheep

Cytogenetic and Genome Research, 2013
Reciprocal translocations represent one of the most common structural chromosomal rearrangements observed in both humans and domestic animals. In these translocations, the balanced forms are most frequent but may remain undetected because the carriers show a normal phenotype.
A Iannuzzi, A Perucatti, V Genualdo, L De Lorenzi, D Di Berardino, P Parma, L Iannuzzi   +6 more
openaire   +6 more sources

Reciprocal translocations: a trap for cytogenetists?

Human Genetics, 2005
We report four cases of subjects with phenotypic abnormalities and mental retardation associated with apparently balanced translocations, two inherited and two de novo, which showed, by molecular analysis, a hidden complexity. All the cases have been analyzed with different molecular techniques, including array-CGH, and in two of them the translocation
CICCONE R, GIORDA R, GREGATO G, GUERRINI R, GIGLIO, SABRINA RITA, CARROZZO R, BONAGLIA MC, PRIOLO E, LAGANA C, TENCONI R, ROCCHI M, PRAMPARO T, ZUFFARDI O, ROSSI E.   +13 more
openaire   +6 more sources

Reciprocal translocation and the Philadelphia chromosome

Human Genetics, 1978
We examined metaphases from three patients with chronic myeloid leukaemia and a typical Philadelphia chromosome with one chromosome 9 as the recipient to determine whether the 9q+22q- translocation is reciprocal. Good quality G-banded photographs of the chromosomes concerned were subjected to light absorption density analysis.
Brenda M. Page, Jessie L. Watt
openaire   +3 more sources

Disomic balanced reciprocal translocation

Clinical Genetics, 1990
The previously unreported and unique finding of a complete disomy of an apparently balanced reciprocal translocation is described. The parents are second cousins once removed and each parent contributed the same balanced reciprocal translocation chromosome. Although the complete disomy involves balanced translocation chromosomes from unaffected parents,
Anthony C. Casamassima, Lawrence R. Shapiro, Patrick L. Wilmot   +2 more
openaire   +3 more sources