Different parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome: A case report.
Medicine (Baltimore)
; 98(44): e17838, 2019 Nov.
Article
em En
| MEDLINE
| ID: mdl-31689873
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos X
/
Síndrome de Klinefelter
Tipo de estudo:
Etiology_studies
Limite:
Adolescent
/
Adult
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article