Results 11 to 20 of about 452,570 (334)

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

Whole Genome Sequencing identifies reciprocal translocation hT2(I;III) breakpoints. [PDF]

MicroPubl Biol, 2021
Flibotte S, Edgley M, Au V, Moerman DG.
europepmc   +3 more sources

De novo balanced reciprocal translocation t(2;3)(q31;q27) in a fetus conceived using PGD in a t(2;14)(q35;q32.1) balanced reciprocal translocation carrier mother [PDF]

Clinical Case Reports, 2017
Key Clinical Message We reported a case of a t(2;14) balanced reciprocal translocation carrier mother that conceived by IVF accompanied by PGD/PGS using array‐CGH; however, de novo t(2;3) was detected in the prenatal diagnosis.
Ji Won Kim, Sung Han Shim, Woo Sik Lee
doaj   +2 more sources

Reciprocal X;1 translocation in a calf [PDF]

Genetics Selection Evolution, 1998
Kiendler S, Korb H, Mayr B, Brem G
doaj   +2 more sources

Novel PGD strategy based on single sperm linkage analysis for carriers of single gene pathogenic variant and chromosome reciprocal translocation. [PDF]

J Assist Reprod Genet, 2020
Wang Y, Zhu X, Yan Z, Zhi X, Guan S, Kuo Y, Nie Y, Lian Y, Huang J, Wei Y, Liu P, Li R, Qiao J, Yan L.   +13 more
europepmc   +3 more sources

A reciprocal translocation radically reshapes sex-linked inheritance in the common frog. [PDF]

Mol Ecol, 2019
X and Y chromosomes can diverge when rearrangements block recombination between them. Here we present the first genomic view of a reciprocal translocation that causes two physically unconnected pairs of chromosomes to be coinherited as sex chromosomes ...
Toups MA, Rodrigues N, Perrin N, Kirkpatrick M.   +3 more
europepmc   +2 more sources

Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing. [PDF]

J Assist Reprod Genet, 2019
Huang C, Jiang W, Zhu Y, Li H, Lu J, Yan J, Chen ZJ.   +6 more
europepmc   +2 more sources

Reciprocal translocation and Robertsonian translocation in relation to semen parameters: A retrospective study and systematic review

Andrologia, 2021
Reciprocal translocation and Robertsonian translocation are known to be causative factors of male infertility. However, the association between autosomal reciprocal translocation, Robertsonian translocation and semen parameters remains controversial.
Xiaochuan Chen, Canquan Zhou
semanticscholar   +1 more source

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