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Special emphasis was placed on structural abnormalities. This review includes 11 cases of 46,XYp\u2010; 90 cases of 46,XYq\u2010 (52 cases non\u2010mosaic; 38 cases 45,X mosaic); 34 cases of 46,X,r(Y) (9 cases non\u2010mosaic and 25 cases 45,X mosaic); 8 cases of 46,X,i(Yp) (4 non\u2010mosaic and 4 mosaic with 45,X); 12 cases of 46,X,i(Yq) (7 non\u2010mosaic and 5 mosaic); 44 cases of 46,X,idic(Yq); 80 cases of 46,X, idic(Yp) (74 cases had breakpoints at Yq11 and 6 cases had breakpoints at Yq12); 130 cases of Y\/autosome translocations (50 cases with a Y\/A reciprocal translocation, 20 cases of Y\/A translocation in 45,X males, 60 cases of Y\/Dp or Y\/Gp translocations); 52 cases of Y\/X translocations [47 cases with der(X); 4 cases with der(Y), and 1 case with 45,X with a der(X)], 7 cases of Y\/Y translocations; 151 postnatally diagnosed cases of 45,X\/46,XY; 14 postnatally diagnosed cases of 45,X\/47,XYY; 18 cases of 45,X\/46,XY\/47,XYY; and 93 aforementioned prenatally diagnosed cases with a 45,X cell line.<\/jats:p><jats:p>It is clear that in the absence of a 45,X cell line, the presence of an entire Yp or a region of it including SRY would lead to a male phenotype in an individual with a Y aneuploidy, whereas the lack of Yp invariably leads to a female phenotype with typical or atypical Ullrich\u2010Turner syndrome (UTS). Once there is a 45,X cell line, regardless of whether there is Yp, Yq, or both Yp and Yq, or even a free Y chromosome in other cell line, there is an increased chance for that individual to be a phenotypic female with UTS manifestations or to have ambiguous external genitalia.<\/jats:p><jats:p>This review once again shows a major difference in reported phenotypes between postnatally and prenatally diagnosed cases of 45,X\/46,XY, 45,X\/47,XYY, and 45,X\/46,XY\/47,XYY mosaicism. It appears that ascertainment bias can explain the fact that all known patients with postnatal diagnosis are phenotypically abnormal, while over 90% of prenatally diagnosed cases are reported to have a normal male phenotype.<\/jats:p><jats:p>Further elucidation of major Y genes and their clinical significance can be expected in the rapidly expanding gene mapping projects. More, consequently better, phenotype\/karyotype correlations can be anticipated at both the cytogenetic and the molecular level. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320530204","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:44:54Z","timestamp":1118511894000},"page":"108-140","source":"Crossref","is-referenced-by-count":253,"title":["Phenotype\/Karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases"],"prefix":"10.1002","volume":"53","author":[{"given":"Lillian Y. 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