Results 1 to 10 of about 84,526 (298)

Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing [PDF]

BMC Genomics, 2023
Background Balanced reciprocal translocation (BRT) is one of the most common chromosomal abnormalities that causes infertility, recurrent miscarriage, and birth defects.
Qiuping Xia, Shenglan Li, Taoli Ding, Zhen Liu, Jiaqi Liu, Yanping Li, Huimin Zhu, Zhongyuan Yao   +7 more
doaj   +2 more sources

Asthenozoospermia in a patient with reciprocal translocation t(12;15): A case report [PDF]

Urology Case Reports
Reciprocal translocation is a chromosomal aberration where fragments are exchanged between two non-homologous chromosomes. Its prevalence is estimated at 0.16–0.2 % in the general population, rising to 1.3 % among infertile men.
Tea Mladenić, Anita Barišić, Ivan Vukelić, Antun Gršković, Nada Starčević Čizmarević, Jadranka Vraneković   +5 more
doaj   +2 more sources

Unbalanced reciprocal translocations at amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present perinatal findings, modes of ascertainments, and modes of segregation in unbalanced reciprocal translocations detected at amniocentesis.
Chih-Ping Chen, Pei-Chen Wu, Chen-Ju Lin, Schu-Rern Chern, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +11 more
doaj   +3 more sources

De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation [PDF]

Molecular Cytogenetics, 2021
Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype
Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai, Ran Meng   +5 more
doaj   +2 more sources

Suppressed Recombination of Sex Chromosomes Is Not Caused by Chromosomal Reciprocal Translocation in Spiny Frog (Quasipaa boulengeri) [PDF]

Frontiers in Genetics, 2018
Chromosome rearrangements (CRs) are perceived to be related to sex chromosome evolution, but it is a matter of controversy whether CRs are the initial causative mechanism of suppressed recombination for sex differentiation.
Xiuyun Yuan, Xiuyun Yuan, Yun Xia, Xiaomao Zeng   +3 more
doaj   +2 more sources

Balanced Reciprocal Translocations Detected at Amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present perinatal findings, modes of ascertainment and parental decision in balanced reciprocal translocations detected at amniocentesis.
Chih-Ping Chen, Pei-Chen Wu, Chen-Ju Lin, Yi-Ning Su, Schu-Rern Chern, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +12 more
doaj   +3 more sources

Rapid mapping of chromosomal breakpoints: from blood to BAC in 20 days. [PDF]

Folia Histochemica et Cytobiologica, 2010
Structural chromosome aberrations and associated segmental or chromosomal aneusomies are major causes of reproductive failure in humans. Despite the fact that carriers of reciprocal balanced translocation often have no other clinical symptoms or disease,
Mei Wang, Adolf Baumgartner, Jingly F Weier, Johnson Kwan, Chun-Mei Lu, Tomas Escudero, Santiago MunnĂŠ, Heinz-Ulrich G Weier   +7 more
doaj   +4 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