[A rare case of dicentric ring chromosome and derivative ring chromosome Chimera].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 39(5): 534-536, 2022 May 10.
Article
en Zh
| MEDLINE
| ID: mdl-35598273
ABSTRACT
OBJECTIVE:
Utilize high-resolution chromosome analysis and microarray detection to determine the genetic etiology of infertility of a 32-year old female patient.METHODS:
The peripheral blood of the patient was cultured for high-resolution chromosome G and C banding karyotype analysis, and then 750K SNP-Array chip detection was performed.RESULTS:
Karyotype analysis results showed that the patient's karyotype was 45,XX,-13 [7]/46,XX,r(13) (p13q34) [185]/46,XX,dic r(13;13)(p13q34;p13q34) [14]/ 47,XX,+der(13;13;13;13) (p13q34;p13q34;p13q34; p13q34), dic r(13;13) [1]/ 46,XX [3]. The microarray results showed that the patient had a 3.3 Mb deletion in the 13q34 segment of chromosome 13, which may be related to infertility.CONCLUSION:
Infertility of the patient reported in this article may be related to the deletion of chromosome segment (13q34-qter).
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosomas en Anillo
/
Trastornos de los Cromosomas
/
Infertilidad Femenina
Límite:
Adult
/
Female
/
Humans
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2022
Tipo del documento:
Article
País de afiliación:
China