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Medicine (Baltimore). 2019 Nov;98(44):e17838. doi: 10.1097/MD.0000000000017838.

Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report.

Author information

1
Departments of Pediatrics, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul.
2
Genome Research Center, Green Cross Genome, Yongin.
3
Departments of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang.
4
Laboratory Medicine, Sanggye Paik Hospital, Inje University, College of Medicine, Seoul, Republic of Korea.

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.

PMID:
31689873
DOI:
10.1097/MD.0000000000017838
[Indexed for MEDLINE]
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