Results 21 to 30 of about 332,184 (284)

Identifying Balanced Chromosomal Translocations in Human Embryos by Oxford Nanopore Sequencing and Breakpoints Region Analysis

Frontiers in Genetics, 2022
Background: Balanced chromosomal aberrations, especially balanced translocations, can cause infertility, recurrent miscarriage or having chromosomally defective offspring.
Zhenle Pei, Ke Deng, Caixai Lei, Danfeng Du, Guoliang Yu, Xiaoxi Sun, Congjian Xu, Shuo Zhang   +7 more
doaj   +1 more source

How might a balanced chromosomal translocation lead to a spectrum of intellectual disabilities in newborns? [PDF]

Journal of Epigenetics, 2023
Background: Intellectual disability (ID) consists of a broad range of disorders characterized by low general intellectual functioning (IQ below 70). ID etiologic causes are heterogeneous, ranging from environmental to chromosomal and monogenic conditions.
Farzaneh Iravani, elahe raji, Seyed Mahdi Kalantar   +2 more
doaj   +1 more source

Linkage map construction involving a reciprocal translocation [PDF]

, 2010
This paper is concerned with a novel statistical–genetic approach for the construction of linkage maps in populations obtained from reciprocal translocation heterozygotes of barley (Hordeum vulgare L.).
Cistué, L., de Jong, J. H., de Jong, J.H., Romagosa, Ignacio, Lacasa Benito, I., Lacasa-Benito, I., Cistué Sola, Luis, I. Lacasa Benito, Jansen, J., Farré, A., Jong, J.H., de, I. Romagosa, A. Farré, J. H. de Jong, J. Jansen, Romagosa, I., L. Cistué   +16 more
core   +1 more source

Chromosomal control of pig populations in France: 2002-2006 survey [PDF]

, 2007
The chromosomal control of pig populations has been widely developed in France over the last ten years. By December 31st, 2006, 13 765 individuals had been karyotyped in our laboratory, 62% of these since 2002.
BERLAND, H.M., Alain Pinton, Mary, Nicolas, Darré, Roland, Nicolas Mary, Alain Ducos, Roland Darré, Amélie Garnier-Bonnet, Hélène-Marie Berland, BILLOUX, S., Garnier-Bonnet, Amélie, BONNET, N., Ducos, Alain, Berland, Hélène-Marie, Bonnet, Nathalie, Anne Calgaro, Pinton, Alain, Billoux, Sébastien, Calgaro, Anne, Nathalie Bonnet, Sébastien Billoux, GARNIER-BONNET, A.   +21 more
core   +2 more sources

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

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

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

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