Preimplantation genetic testing for a couple where the husband is affected by osteogenesis imperfecta combined with balanced translocation using karyomapping technique / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1068-1072, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-921999
ABSTRACT
OBJECTIVE@#To carry out preimplantation genetic testing (PGT) for a couple where the husband was affected by osteogenesis imperfecta combined with balanced translocation using the karyomapping technique.@*METHODS@#Blastocysts were detected using karyomapping, the carrier status of COL1A1 c.760G>A (p.Gly254Arg) variant and the carrier status of the translocated chromosome were analyzed simultaneously.@*RESULTS@#For a total of 10 blastocysts, two euploid blastocysts were found to not carry the COL1A1 c.760G>A (p.Gly254Arg) variant but a balanced translocation. After transplanting one of the blastocysts, clinical pregnancy was achieved. Amniocentesis at 18th gestational week and prenatal genetic testing was in keeping with the result of PGT.A healthy female was born at 40+4 weeks gestation.@*CONCLUSION@#For patients simultaneously carrying genetic variant and balanced chromosomal translocation, PGT can be performed with efficiency by the use of karyomapping method.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteogénesis Imperfecta
/
Translocación Genética
/
Blastocisto
/
Fertilización In Vitro
/
Pruebas Genéticas
/
Esposos
/
Diagnóstico Preimplantación
Tipo de estudio:
Estudio diagnóstico
Límite:
Femenino
/
Humanos
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2021
Tipo del documento:
Artículo
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