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.

DOI:10.1097/MD.0000000000017838

PMID:31689873

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6946345/

Abstract

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.

摘要