克兰费尔特综合征兄弟中额外X染色体的不同亲本来源：一例报告
Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report.
作者信息
Kim Shin-Hye, Park Mi-Jung, Cho Eun Hae, Kim Sollip, Yoo Soo Jin
机构信息
Departments of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul.
Genome Research Center, Green Cross Genome, Yongin.
出版信息
Medicine (Baltimore). 2019 Nov;98(44):e17838. doi: 10.1097/MD.0000000000017838.
RATIONALE
Recurrence of Klinefelter syndrome (KS) in non-twin brothers is very rare. This study examined the inheritance pattern of supernumerary X chromosomes in non-twin brothers.
PATIENT CONCERNS
A 16-year-old man presented with small-sized testicles. During his diagnostic work-up, his brother, in his late 20's, also complained of small testes and erectile dysfunction.
DIAGNOSIS
Chromosome analysis in peripheral blood revealed non-mosaic 47,XXY karyotype in both brothers. Their mother showed a normal 46,XX karyotype.
INTERVENTIONS
To examine the inheritance pattern of supernumerary X chromosomes, quantitative-fluorescence PCR was performed with small tandem repeat markers. It revealed that their supernumerary X chromosomes were inherited from different parents.
OUTCOMES
After the diagnosis of KS, 2 brothers started to receive testosterone treatment.
CONCLUSION
This case report is the first to report differences in the origins of supernumerary X chromosomes in brothers with KS and furthers the current understanding of the cytogenetic mechanisms in KS.
原理
克氏综合征（KS）在非双胞胎兄弟中复发非常罕见。本研究调查了非双胞胎兄弟中额外X染色体的遗传模式。
患者情况
一名16岁男性因睾丸体积小前来就诊。在其诊断检查过程中，他20多岁的哥哥也抱怨睾丸小和勃起功能障碍。
诊断
外周血染色体分析显示兄弟俩均为非嵌合型47,XXY核型。他们的母亲核型正常，为46,XX。
干预措施
为研究额外X染色体的遗传模式，使用小串联重复序列标记进行了定量荧光PCR。结果显示他们的额外X染色体来自不同的父母。
结果
确诊KS后，两兄弟开始接受睾酮治疗。
结论
本病例报告首次报道了KS兄弟中额外X染色体起源的差异，进一步加深了目前对KS细胞遗传学机制的理解。
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