A rare case of dicentric ring chromosome and derivative ring chromosome Chimera / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 534-536, 2022.
Article
ي Zh
| WPRIM
| ID: wpr-928453
المكتبة المسؤولة:
WPRO
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).
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Ring Chromosomes
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Chimera
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Chromosome Banding
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Chromosome Deletion
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Chromosome Disorders
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Dacarbazine
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Infertility
المحددات:
Adult
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Female
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Humans
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2022
نوع:
Article