Molecular analysis of aberrations of Xp and Yq

Sou De Cheng*, Robert Gasparini, Ulrich Müller

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

6 Scopus citations


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.

Original languageEnglish
Pages (from-to)379-382
Number of pages4
JournalHuman Genetics
Issue number4
StatePublished - 02 1992
Externally publishedYes


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