TY  - JOUR
AU  - Llamos-Paneque, Arianne
AU  - Echevarria-Frutos., Isabel
AU  - León-Siosa, Amaury
AU  - Herrmann, Tanja
AU  - Liehr, Thomas
PY  - 2024
DA  - 2024/09/26
TI  - Becker Phenotype Muscular Dystrophy in a Man with Klinefelter Syndrome: A Rare Association
JO  - OBM Genetics
SP  - 262
VL  - 08
IS  - 03
AB  - To present a rare clinical case of a man affected simultaneously by Becker phenotype Muscular Dystrophy (MD) and Klinefelter syndrome and the way how he was diagnosed. A 35-year-old man was evaluated in the context of hospitalization for respiratory failure. Since childhood, he had a clinical and muscle biopsy diagnosis of muscular dystrophy, possibly type Becker. His physical examination showed severe weakness of the pelvic and shoulder girdle, with a waddling gait, grade II scoliosis associated with tall height, obesity, and hypogonadism. Banding cytogenetics detected a sexual trisomy, 47, XXY in ~64% of peripheral blood cells. A heterozygote missense mutation in the dystrophin gene (DMD) was found in parallel using next-generation sequencing. Biparental origin, both X chromosomes suggest nondisjunction in paternal meiosis I, followed by a postzygotic trisomic rescue in a subset of fetal cells during embryonic development. Maternal inheritance of the DMD gene mutation was excluded, suggesting a de novo origin. This is the eighth case where Klinefelter syndrome and Becker phenotype Muscular Dystrophy are parallel. As the patient presents with relatively mild MD symptoms for his age, a skewed X-inactivation pattern in the 47, XXY cell line may be suggested. 
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.2403262
DO  - 10.21926/obm.genet.2403262
ID  - Llamos-Paneque2024
ER  -