The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction

Cheng, Dehua; Yuan, Shi‐Min; Hu, Liang; Yi, Duo; Luo, Keli; Gong, Fei; Lu, Can‐Zhong; Lu, Guangxiu; Lin, Ge; Tan, Yue‐Qiu

doi:10.1007/s10815-020-01986-1

Cited by 3 publications

(1 citation statement)

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“…Even more so, the difficulty of obtaining normal/balanced embryos is increased by the presence of balanced translocations in both partners, which have been reported in several cases of consanguineous marriages in which offspring underwent pregnancy termination due to different phenotypic abnormalities 12 – 15 . Preimplantation genetic diagnosis (PGD) enables embryo biopsy of chromosomal translocation carriers to select normal or balanced euploid embryos for intrauterine transfer, which will effectively reduce miscarriage and improve live birth rates 16 .…”

Section: Introductionmentioning

confidence: 99%

Gene sequencing and result analysis of balanced translocation carriers by third-generation gene sequencing technology

Zeng

Lin

Liang

et al. 2023

Sci Rep

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Because the total gene copy number remains constant and all genes are normally expressed, carriers of balanced chromosomal translocations usually have a normal phenotype but are able to produce many different types of gametes during meiosis, and unbalanced gametes lead to increased risks of infertility, recurrent spontaneous abortion, stillbirth, neonatal death or malformations and intellectual abnormalities in offspring. The key to balanced translocations lies in finding the breakpoints, but current genetic testing techniques are all short-read sequencing, with the disadvantage of procedural complexity and imprecision for precisely identifying the breakpoints. The latest third-generation sequencing technology overcomes these drawbacks and uses robust long-read sequencing to accurately and rapidly detect genome-wide information and identify breakpoint locations. In this paper, we performed whole genome long-read sequencing using an Oxford Nanopore sequencer to detect the breakpoints of 4 balanced chromosomal translocation carriers. The results showed that employing about ~ 10× coverage confirmed 6 of the 8 breakpoints, of which, 2 had microdeletions/insertions identified near the breakpoints and 4 had breakpoints that disrupted the normal gene structure and were simultaneously tested for genome-wide structural variation (SV). The results show that whole genome long-read sequencing is an efficient method for pinpointing translocation breakpoints and providing genome-wide information, which is essential for medical genetics and preimplantation genetic testing.

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Section: Introductionmentioning

confidence: 99%