Results 11 to 20 of about 332,184 (284)

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

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   +2 more sources

Balanced reciprocal translocation: Multiple chromosome rearrangements in an infertile female [PDF]

Journal of Human Reproductive Sciences, 2019
Double reciprocal translocations and triple-balanced reciprocal translocations multiple chromosome rearrangements are very rare events in the phenotypically normal individuals. Chromosome analysis with 500-band resolution was performed and analyzed in an
Neelam Gupta, Rupa Dalvi, Neeraja Koppaka, Swarna Mandava   +3 more
doaj   +2 more sources

Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly [PDF]

Human Genome Variation
Here we report a patient with holoprosencephaly (HPE) associated with 45, XY,der(18)t(18;21)(p11.2;q21.3),-21 derived from a paternal balanced reciprocal translocation. Array comparative genomic hybridization analysis revealed 18p11.32-p11.21 and 21q11.2-
Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori, Masahide Goto, Toshihiro Tajima, Aiko Sasaki, Takayoshi Matsumura, Takanori Yamagata   +7 more
doaj   +2 more sources

High-resolution mapping of reciprocal translocation breakpoints using long-read sequencing [PDF]

MethodsX, 2019
Long-read nanopore sequencing enables direct high-resolution breakpoint mapping on balanced carriers of reciprocal translocation. The mean sequencing depth on the translocated chromosomes to achieve accurate mapping of breakpoints ranged from 2.5-fold to
Judy F.C. Chow, Heidi H.Y. Cheng, Estella Y.L. Lau, William S.B. Yeung, Ernest H.Y. Ng   +4 more
doaj   +2 more sources

Reciprocal Translocation

Citation: 'reciprocal translocation' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11166 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
exaly   +2 more sources

Non-Random Distribution of Reciprocal Translocation Breakpoints in the Pig Genome [PDF]

Genes, 2019
Tamás Revay
exaly   +2 more sources

Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature

Reproductive Biology and Endocrinology, 2021
Background Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth.
Dun Liu, Chuangqi Chen, Xiqian Zhang, Mei Dong, Tianwen He, Yunqiao Dong, Jian Lu, Lihua Yu, Chuanchun Yang, Fenghua Liu   +9 more
doaj   +1 more source

Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations

Frontiers in Genetics, 2022
Reciprocal translocations are the most common structural chromosome rearrangements and may be associated with reproductive problems. Therefore, the objective of this study was to analyze factors that can influence meiotic segregation patterns in ...
Pingyuan Xie, Pingyuan Xie, Pingyuan Xie, Liang Hu, Liang Hu, Liang Hu, Liang Hu, Yangqin Peng, Yue-qiu Tan, Yue-qiu Tan, Yue-qiu Tan, Yue-qiu Tan, Keli Luo, Keli Luo, Keli Luo, Keli Luo, Fei Gong, Fei Gong, Fei Gong, Fei Gong, Guangxiu Lu, Guangxiu Lu, Guangxiu Lu, Guangxiu Lu, Ge Lin, Ge Lin, Ge Lin, Ge Lin   +27 more
doaj   +1 more source

Balanced Chromosomal Rearrangements Associated with Hypoprolificacy in Australian Boars (Sus scrofa domesticus)

Cells, 2021
Balanced chromosomal rearrangements, mainly reciprocal translocations, are considered to be the causative agent of several clinical conditions in farmed pigs, resulting in hypoprolificacy and economic losses.
Foyez Shams, Darryl D’Souza, Tariq Ezaz   +2 more
doaj   +1 more source

Effects of Gender of Reciprocal Chromosomal Translocation on Blastocyst Formation and Pregnancy Outcome in Preimplantation Genetic Testing

Frontiers in Endocrinology, 2021
ObjectiveTo determine the effect of gender of reciprocal chromosomal translocation on blastocyst formation and pregnancy outcome in preimplantation genetic testing, including different parental ages.MethodsThis was a retrospective cohort study that ...
Hui Song, Hui Song, Hao Shi, Hao Shi, En-tong Yang, En-tong Yang, Zhi-qin Bu, Zhi-qin Bu, Zi-qi Jin, Zi-qi Jin, Ming-zhu Huo, Ming-zhu Huo, Yi-le Zhang, Yi-le Zhang   +13 more
doaj   +1 more source