Case ReportsShort Stature, Type E Brachydactyly, Exostoses, Gynecomastia, and Cryptorchidism in a Patient with 47,XYY/45,X/46,XY Mosaicism
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Case Report
A 72-year-old man was admitted to the Department of Dermatology, University of Patras with an acute relapse of his chronic plaque psoriasis. He was the only product of the first and uncomplicated pregnancy of unrelated parents. He was born by vaginal delivery at term; data on birth weight and body length at birth were unavailable. The paternal and maternal ages at birth were 23 years and 18 years, respectively. The patient's short stature and brachydactyly became evident in the first years of
Discussion
We report a 47,XYY/45,X/46,XY mosaicism with 47,XYY being the prevalent cell line and 45,X cells restricted to a very low percentage. It is possible for such a mosaic to arise as a consequence of various genetic changes resulting in the formation of aneuploid cells. A nondisjunction of chromosome Y at the second meiotic division of the paternal germ cells followed by loss of the same chromosome in somatic cells could result in this mosaic. In addition, mitotic nondisjunction in the early
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Cited by (10)
Whether to transfer mosaic embryos: a cytogenetic view of true mosaicism by amniocentesis
2021, Reproductive BioMedicine OnlineCitation Excerpt :A case report has presented a phenotypic male with congenital adrenal hyperplasia, diagnosed with cervical cancer, with a 45,X/47,XXX/46,XX karyotype (Heim et al., 2018). Another case report presented a male patient with 47,XYY/45,X/46,XY who had multiple anomalies involving short stature, type E brachydactyly, mental retardation, exostoses, gynaecomastia, cryptorchidism and psychotic disorder (Monastirli et al., 2005). No reports regarding mosaic 45,X/45,X,del(X)(p10) and 45,X/47,XX,+20/46,XX could be found in the current available literature.
Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq and mosaicism of 45,X
2023, Chinese Journal of Medical GeneticsDisorder of Sexual Development Males With XYY in Blood Have Exactly X/XY/XYY Mosaicism in Gonad Tissues
2021, Frontiers in GeneticsThe Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: Molecular cytogenetic studies
2020, Rossiyskiy Vestnik Perinatologii i Pediatrii