Jansen J, Hansen E, Hobolth N, Jacobsen P, Mikkelsen M
Clin Genet. 1976 Feb;9(2):163-8. doi: 10.1111/j.1399-0004.1976.tb01563.x.
A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.
本文描述了一名患者，他除患有48，XXXY克氏综合征外，还患有常染色体显性遗传性指甲-髌骨综合征，该综合征通过其母亲从外祖父遗传而来。发现了两种综合征的临床症状。采用溴脱氧尿苷掺入法和吖啶橙染色进行染色体研究，结果显示一条X染色体染色深，而其他X染色体伸长且染色浅。观察到额外染色体伸展程度的差异。同一患者出现两种罕见综合征被认为是偶然的。
