Summary
Using chromosome banding techniques, a phenotypically normal male was found to have an abnormal banding pattern of the Y chromosome. By the constitutive heterochromatin staining method, a darkly stained band was located on the short arm and the proximal region of the long arm. The quinacrine staining method also showed a similar abnormal banding pattern: a brightly fluorescing band was seen on the short arm and the proximal region of the long arm. By the conventional Giemsa staining method, however, no specific morphological abnormality was detected in the aberrant Y. On detailed karyotype analyses no recognizable abnormality of banding patterns of any other chromosome was found aside from the abnormal Y. The abnormality was determined to be a complex inversion of the Y chromosome, which is described as 46,X,inv(Y)(pter→p11::q11→q12::cen::q12→qter).
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Sofuni, T., Tanabe, K., Naruto, J. et al. A new type of inversion of a human Y chromosome. Hum Genet 30, 91–97 (1975). https://doi.org/10.1007/BF00291940
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DOI: https://doi.org/10.1007/BF00291940