Results 31 to 40 of about 452,570 (334)

Preimplantation genetic diagnosis by fluorescence in situ hybridization of reciprocal and Robertsonian translocations

Taiwanese Journal of Obstetrics & Gynecology, 2014
Objective: The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed.
Chun-Kai Chen, Dennis Wu, Hsing-Tse Yu, Chieh-Yu Lin, Mei-Li Wang, Hsin-Yi Yeh, Hong-Yuan Huang, Hsin-Shin Wang, Yung-Kuei Soong, Chyi-Long Lee   +9 more
doaj   +1 more source

Effects of chromosomal translocation characteristics on fertilization and blastocyst development — a retrospective cohort study

BMC Medical Genomics, 2023
Objective To determine the effect of different translocation characteristics on fertilization rate and blastocyst development in chromosomal translocation patients. Methods This retrospective cohort study was conducted at the Third Affiliated Hospital of
Shanshan Wu, Jianrui Zhang, Yichun Guan, Bingnan Ren, Yuchao Zhang, Xinmi Liu, Kexin Wang, Mingmei Zhang, Zhen Li   +8 more
doaj   +1 more source

Reciprocal translocations in cattle: frequency estimation [PDF]

Journal of Animal Breeding and Genetics, 2012
SummaryChromosomal anomalies, like Robertsonian and reciprocal translocations, represent a big problem in cattle breeding as their presence induces, in the carrier subjects, a well‐documented fertility reduction. In cattle, reciprocal translocations (RCPs, a chromosome abnormality caused by an exchange of material between non‐homologous chromosomes ...
L. De Lorenzi, P. Morando, J. Planas, M. Zannotti, L. Molteni, P. Parma   +5 more
openaire   +3 more sources

Identification of a t(3;4)(p1.3;q1.5) translocation breakpoint in pigs using somatic cell hybrid mapping and high-resolution mate-pair sequencing. [PDF]

PLoS ONE, 2017
Reciprocal translocations are the most frequently occurring constitutional structural rearrangements in mammalian genomes. In phenotypically normal pigs, an incidence of 1/200 is estimated for such rearrangements. Even if constitutional translocations do
Katia Fève, Sylvain Foissac, Alain Pinton, Florence Mompart, Diane Esquerré, Thomas Faraut, Martine Yerle, Juliette Riquet   +7 more
doaj   +1 more source

Phenotypic Plasticity and Local Adaptation in a Wild Hibernator Evaluated through Reciprocal Translocation*

American Naturalist, 2019
Phenological shifts are the most commonly reported ecological responses to climate change and can be produced rapidly by phenotypic plasticity. However, both the limits of plasticity and whether it will be sufficient to maintain local adaptation (or even
J. Lane, Z. Czenze, Rachel Findlay-Robinson, E. Bayne   +3 more
semanticscholar   +1 more source

Concomitance of 47,XXY, a balanced reciprocal translocation of t(4;17)(q12;q11.2) encompassing SPINK2 at 4q12 and NOS at 17q11.2 and an AZFa sY86 deletion in an infertile male

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present an infertile male who was incidentally detected to have Klinefelter syndrome, a balanced reciprocal translocation of t(4; 17) (q12; q11.2) and an AZFa sY86 deletion. We review the literature and discuss the significance of 47,XXY, t(
Fang-Tzu Wu, Chih-Ping Chen, Shin-Wen Chen, Schu-Rern Chern, Po-Tsang Chen, Chien-Ling Chiu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source

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

Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome

The Turkish Journal of Pediatrics, 2019
We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric ...
Nahla Nazmy, Ghada Elhady, Esraa Refaat, Soha Kholeif   +3 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