title: Molecular analysis of aberrations of Xp and Yq.
abstract: 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.
authors.affiliation: Children's Hospital, Department of Pediatrics, Boston, MA.
authors.forename: S D
authors.initials: SD
authors.lastname: Cheng
authors.forename: R
authors.initials: R
authors.lastname: Gasparini
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004247:DNA / Q000235:genetics* / Q000302:isolation & purification; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D006801:Humans; D066298:In Vitro Techniques; D007231:Infant, Newborn; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D015183:Restriction Mapping; D014960:X Chromosome; D014998:Y Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers; D004247:DNA