[Genetic analysis and PGT-SR outcome of a male carrier of exceptional complex chromosome rearrangement].

OBJECTIVE: To investigate the clinical and genetic characteristics of a male carrier of exceptional complex chromosome rearrangement (CCR) and the outcome of preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR). METHODS: Using the modified high resolution G banding technique and whole-genome low-coverage sequencing (WGLCS), we analyzed the cellular karyotype and molecular karyotype of a male carrier of CCR, performed an analysis of the single-sperm chromosome copy number and conducted PGT-SR for the patient by next-generation sequencing (NGS). In addition, we reviewed the literature on reported male carriers of CCRs and summarized their normal/balanced sperm ratios and PGT-SR outcomes. RESULTS: The karyotype of the patient was 46,XY,der(5)inv(5)(q14.3q23.2)t(5;14;11) (q23.2;q31.1;q21),der(11)t(5;14;11);der(14)t(5;14;11), with the translocation breakpoints located in the intergenic region. Single-sperm sequencing revealed 20.0%（7/35）of normal haploids in the male's spermatozoa， and the results PGT-SR showed a proportion of 25.0%（4/16）of normal/balanced embryos. After thawing and transferring of 2 euploid blastocysts, a healthy male infant was successfully delivered. CONCLUSION: The proportion of normal haploids in the spermatozoa of male CCR carriers may be higher than theoretically predicted, and PGT-SR can effectively improve the pregnancy outcome in male CCR carriers and provide valuable data for genetic counseling.

Changes of retinal nerve fiber layer thickness in patients with pseudoexfoliation glaucoma / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To compare the retinal nerve fiber layer(RNFL)thickness in Uyghur patients with pseudoexfoliation syndrome(PEX)or pseudoexfoliative glaucoma(PEXG)and to provide a theoretical basis for the early diagnosis of PEXG.METHODS: A retrospective case-control study was conducted. A total of 70 cases(70 eyes)of Uyghur PEX patients, 80 cases(80 eyes)of PEXG patients, and 60 cases(60 eyes)of age-related cataract patients who were admitted to our hospital from April 2018 to June 2020 were selected as the PEX group, PEXG group, and CON group, respectively. The PEXG group was further divided into mild-to-moderate stage(56 eyes)and severe stage(24 eyes)based on the stage of visual field defect, and the RNFL thickness at different locations of the optic disc was analyzed.RESULTS: The mean defect(MD)gradually increased in the CON group, PEX group, and PEXG group, and it was significantly higher in PEXG group than that in the PEX group(P<0.01). The RNFL thickness at different locations of the optic disc in the PEX group, mild-to-moderate stage PEXG group, and severe-stage PEXG group was thinner than that in the CON group(all P<0.01). The mean RNFL thickness, as well as the RNFL thickness below and above the optic disc, were lower in the PEX group than in the CON group(all P<0.01). The RNFL thickness at all locations of the optic disc in the severe-stage PEXG group was significantly lower than that in the mild-to-moderate stage PEXG group(all P<0.01).CONCLUSION: The RNFL thickness in Uyghur patients with PEX begins to be thinner than those without pseudoexfoliation syndrome, and early detection of RNFL thickness in PEX patients is helpful for the diagnosis and early treatment of PEXG.