Molecular analysis of aberrations of Xp and Yq |
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Authors: | Sou-De Cheng Robert Gasparini Ulrich Müller |
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Affiliation: | (1) Genetics Division, Children's Hospital, Department of Pediatrics, 300 Longwood Avenue, Harvard Medical School, 02115 Boston, MA, USA;(2) Baystate Medical Center, 01199 Springfield, MA, USA |
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Abstract: | Summary 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. |
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