自发流产样本中存在完全三体 5 和 Arias Stella 反应。
Full trisomy 5 in a sample of spontaneous abortion and Arias Stella reaction.
机构信息
Clinical Hospital Split, Pediatrics Clinic, Department of Medical Genetics with Laboratory for Human Genetics and Genetic Counseling Unit, Split, Croatia.
出版信息
Med Sci Monit. 2011 Oct;17(10):CS116-9. doi: 10.12659/msm.881969.
BACKGROUND
Historically, 50% of spontaneously expelled abortuses have been thought to be chromosomally abnormal; about 60% are trisomies. In general, trisomy 16 is the most frequent chromosomal abnormality, followed by trisomy 21 and trisomy 22. So far only 1 case of a female fetus with multiple congenital malformations associated with full trisomy 5 has been described.
REPORT
We present a case of de novo full trisomy 5 in a spontaneous abortion sample. A young couple with normal constitutional karyotype experienced the second spontaneous abortion at 9 weeks of gestation, with the cytogenetic formula 47,XX,+5 in all analyzed cells.
CONCLUSIONS
The routine cytogenetic analysis of miscarriages is still an uncommon practice, but it can have a great impact on the management of couples with repeated pregnancy wastage. Besides of the obvious cost benefit for health care, such analysis would help the physician to decide about future patient management, as well as planning the genetic counseling.
背景
从历史上看，人们认为 50%的自然流产胚胎存在染色体异常；其中约 60%为三体。一般来说，三体 16 是最常见的染色体异常，其次是三体 21 和三体 22。到目前为止，仅描述过一例与完全三体 5 相关的多发先天畸形的女性胎儿。
报告
我们呈现了一例自发性流产样本中出现的新发完全三体 5 病例。一对核型正常的年轻夫妇经历了第二次自发流产，妊娠 9 周时所有分析细胞的核型公式为 47，XX，+5。
结论
常规的流产细胞遗传学分析仍然不常见，但它对反复妊娠丢失的夫妇的管理有重大影响。除了对医疗保健具有明显的成本效益外，这种分析还有助于医生决定未来的患者管理以及遗传咨询计划。
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