Molecular analysis of aberrations of Xp and Yq

✍ Scribed by Sou-De Cheng; Robert Gasparini; Ulrich Müller

• Publisher: Springer
• Year: 1992
• Tongue: English
• Weight: 552 KB
• Volume: 88
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/bf00215669

✦ Synopsis

Three cases of Y chromosomal aberrations were studied using a panel of Y-specific DNA sequences from both Yp and euchromatic Yq. One case was a phenotypic male fetus with a Y-derived marker chromosome. The short arm of this chromosome was intact, but most of its long arm was missing. The second case had a 46,XYq- karyotype with portions of euchromatic Yq, including the spermatogenesis region, missing. The third case was a phenotypic female with a 46,XXp+ karyotype. The extra material on the Xp+ chromosome was derived from the heterochromatic, and part of the euchromatic, portion of Yq. Application of X-specific DNA sequences demonstrated that the distal portion of the short arm of the translocation X chromosome was deleted (Xpter-p22.3). The three examples demonstrate the importance of diagnostic DNA analysis in cases of marker chromosomes, and X and Y chromosomal aberrations. In addition, the findings in the patients facilitate further deletion mapping of euchromatic Yq.