Open AccessDifferent parental origins of supernumerary X chromosomes in brothers with Klinefelter syndrome
Author(s) -
Shin Hye Kim,
Mijung Park,
Eun Hae Cho,
Sollip Kim,
Soo Jin Yoo
Publication year - 2019
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000017838
Subject(s) - supernumerary , karyotype , klinefelter syndrome , small supernumerary marker chromosome , genetics , medicine , x chromosome , chromosome , aneuploidy , pediatrics , biology , anatomy , gene
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.