[Genetic analysis and PGT-SR outcome of a male carrier of exceptional complex chromosome rearrangement].
Zhonghua Nan Ke Xue
; 30(7): 627-633, 2024 Jul.
Article
in Zh
| MEDLINE
| ID: mdl-39212398
ABSTRACT
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%ï¼7/35ï¼of normal haploids in the male's spermatozoaï¼ and the results PGT-SR showed a proportion of 25.0%ï¼4/16ï¼of 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.Key words
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Translocation, Genetic
/
Preimplantation Diagnosis
Limits:
Adult
/
Female
/
Humans
/
Male
/
Pregnancy
Language:
Zh
Journal:
Zhonghua Nan Ke Xue
Journal subject:
MEDICINA REPRODUTIVA
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: