Results 51 to 60 of about 521,476 (356)

Chromosomal translocation disrupting the SMAD4 gene resulting in the combined phenotype of Juvenile polyposis syndrome and Hereditary Hemorrhagic Telangiectasia

Molecular Genetics & Genomic Medicine, 2020
Background Patients with germline variants in SMAD4 can present symptoms of both juvenile polyposis syndrome (JPS) and Hereditary Hemorrhagic Telangiectasia (HHT): JP‐HHT syndrome.
Katrine S. Aagaard, Klaus Brusgaard, Ieva Miceikaite, Martin J. Larsen, Anette D. Kjeldsen, Emilie B. Lester, Lilian B. Ousager, Pernille M. Tørring   +7 more
doaj   +1 more source

The Economic Burden of Chromosome Translocations and the Benefits of Enhanced Screening for Cattle Breeding

Animals, 2022
The cattle breeding industry, through both of its derivatives (dairy and beef), provides 81% of milk and 22% of meat required globally. If a breeding bull is sub-fertile, this impacts herd conception and birth rates, and it is generally accepted that ...
Nicole M. Lewis, Carla Canedo-Ribeiro, Claudia C. Rathje, Rebecca L. Jennings, Maxim Danihel, Lisa M. Bosman, Giuseppe Silvestri, Darren K. Griffin   +7 more
doaj   +1 more source

Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations

Molecular Cytogenetics, 2019
Purpose To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal ...
Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin, Ningyuan Zhang   +6 more
doaj   +1 more source

Reciprocal translocation t(2;12)(q31;p13) in a case of CMML [PDF]

, 2007
Case report of a translocation : Reciprocal translocation t(2;12)(q31;p13) in a case of ...
Fisfis, M, Stefanoudaki, K, Iakovaki, D, Bardi, G   +3 more
core   +1 more source

Molecular and classical cytogenetic analyses demonstrate an apomorphic reciprocal chromosomal translocation in Gorilla gorilla [PDF]

, 1992
The existence of an apomorphic reciprocal chromosomal translocation in the gorilla lineage has been asserted or denied by various cytogeneticists. We employed a new molecular cytogenetic strategy (chromosomal in situ suppression hybridization) combined ...
Stanyon, Roscoe, Cremer, Thomas, Romagno, D., Wienberg, Johannes, A. Jauch, T. Cremer, Bigoni, F., J. Wienberg, F. Bigoni, D. Romagno, Jauch, Anna, R. Stanyon   +11 more
core   +1 more source

Reciprocal translocations: tracing their meiotic behavior [PDF]

Genetics in Medicine, 2008
Segregation and interchromosomal effect studies have been performed in reciprocal translocation carriers by sperm-fluorescent in situ hybridization reporting a great heterogeneity. The divergences have been attributed to the particular cytogenetic characteristics of each rearrangement.
Ester, Anton, Francesca, Vidal, Joan, Blanco   +2 more
openaire   +2 more sources

Prenatal Diagnosis and Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 18 and Associated With a Reciprocal Translocation Involving Chromosomes 17 And 18

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: Prenatal diagnosis of small supernumerary marker chromosomes (sSMC) gives rise to difficulties in genetic counseling, and requires molecular cytogenetic technologies such as spectral karyotyping, fluorescence in situ hybridization, multicolor ...
Chih-Ping Chen, Chyi-Chyang Lin, Yi-Ning Su, Fuu-Jen Tsai, Ju-Ting Chen, Schu-Rern Chern, Chen-Chi Lee, Dai-Dyi Town, Li-Feng Chen, Pei-Chen Wu, Wayseen Wang   +10 more
doaj   +1 more source

Complex Variant t(9;22) Chromosome Translocations in Five Cases of Chronic Myeloid Leukemia

Advances in Hematology, 2009
The Philadelphia (Ph1) chromosome arising from the reciprocal t(9;22) translocation is found in more than 90% of chronic myeloid leukemia (CML) patients and results in the formation of the chimeric fusion gene BCR-ABL.
Ana Valencia, José Cervera, Esperanza Such, Eva Barragán, Pascual Bolufer, Oscar Fuster, Rosa Collado, Jesús Martínez, Miguel A. Sanz   +8 more
doaj   +1 more source

PGT-SR: A Comprehensive Overview and a Requiem for the Interchromosomal Effect

DNA, 2023
Preimplantation genetic testing for structural rearrangements (PGT-SR) was one of the first applications of PGT, with initial cases being worked up in the Delhanty lab.
Darren K. Griffin, Cagri Ogur
doaj   +1 more source

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
P.M. Gopinath, Hansmann, Ingo, I. Hansmann, Schempp, Werner, Wimmer, R., Palaniappan, I., Wimmer, Rainer, W. Schempp, I. Palaniappan, Palaniappan, Ilayaraja, Gopinath, P. M., N. Chandra, Hansmann, I., Chandra, N., Nagarajappa, C. S., R. Wimmer, C.S. Nagarajappa, Schempp, W.   +17 more
core   +1 more source