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The resultant flow karyotypes contain information about the relative DNA content and base composition of chromosomes and their relative frequencies in the mitotic cell sample. The relative copy number of X and Y chromosomes was determined for 38 normal males and females and 6 cell lines with X or Y chromosome aneuploidy. Flow karyotype diagnoses corresponded with conventional cytogenetic results in all cases. We show that chromosome DNA content can be derived from peak position in Hoechst vs. chromomycin flow karyotypes. These values are linearly related to propidium iodide staining intensity as measured with flow cytometry and to the binding of gallocyanin chrome alum to phosphate groups as measured with slide\u2010based scanning photometry. Cell lines with deleted or dicentric X chromosomes ranging in length from 0.53 to 1.95 times normal were analyzed by using flow cytometry. The measured difference in DNA content between a normal X and each of the structurally abnormal chromosomes was linearly correlated to the difference predicted from cytogenetics and\/or probe analyses. Deletions of 3\u20135 Mb, which were at and below the detection limits of conventional cytogenetics, could be quantified by flow karyotyping in individuals with X\u2010linked diseases such as Duchenne muscular dystrophy, choroideremia, and ocular albinism\/ichthyosis. The results show that the use of flow karyotyping to quantify the size of restricted regions of the genome can complement conventional cytogenetics and other physical mapping techniques in the study of genetic disorders.<\/jats:p>","DOI":"10.1002\/cyto.990110121","type":"journal-article","created":{"date-parts":[[2005,8,8]],"date-time":"2005-08-08T14:24:14Z","timestamp":1123511054000},"page":"184-195","source":"Crossref","is-referenced-by-count":26,"title":["Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping"],"prefix":"10.1002","volume":"11","author":[{"given":"Barbara","family":"Trask","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ger","family":"van den Engh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert","family":"Nussbaum","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joe","family":"Gray","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,21]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1182\/blood.V72.1.282.282","article-title":"Bivariate flow karyotypes in human Philadelphia\u2010positive chronic myelocytic leukemia","volume":"72","author":"Arkesteijn G. 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