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胎盘9号染色体三体检测后诊断出的9号染色体嵌合体病例。

A Case of Trisomy 9 Mosaicism Diagnosed Following Detection of Placental Trisomy 9.

作者信息

Hasegawa Yuri, Miura Shoko, Nagata Koh, Nagata Ai, Miura Kiyonori

机构信息

Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, JPN.

出版信息

Cureus. 2025 Jun 7;17(6):e85532. doi: 10.7759/cureus.85532. eCollection 2025 Jun.

Abstract

We report a case in which fetal growth restriction was observed during pregnancy. A placental chromosomal analysis was performed to investigate the cause of the fetal growth restriction and it showed trisomy 9. Prompt chromosomal testing of the neonate led to the diagnosis of trisomy 9 mosaicism. Although the neonate was small for gestational age and had mild respiratory distress and feeding difficulties, her clinical symptoms were minimal. Trisomy 9 mosaicism is extremely rare and shows considerable variability in its clinical presentation. This case report is important because trisomy 9 was detected by a placental chromosome analysis that was conducted to investigate the cause of fetal growth restriction. Additionally, a newborn with mild clinical findings was unexpectedly diagnosed with trisomy 9 mosaicism.

摘要

我们报告了一例孕期观察到胎儿生长受限的病例。为调查胎儿生长受限的原因进行了胎盘染色体分析,结果显示为9三体。对新生儿进行的快速染色体检测确诊为9三体嵌合体。尽管该新生儿小于胎龄,有轻度呼吸窘迫和喂养困难,但她的临床症状很轻微。9三体嵌合体极为罕见,其临床表现差异很大。本病例报告很重要,因为通过对胎盘进行染色体分析来调查胎儿生长受限的原因时检测到了9三体。此外,一名临床表现轻微的新生儿意外地被诊断为9三体嵌合体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7ec3/12145216/2e256fbfe6f6/cureus-0017-00000085532-i01.jpg

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