Analysis of complex Y chromosome aberrations using a single DNA probe (Y-367).
A specific cloned DNA sequence (Y-367) detects at least four loci in the euchromatic long arm and in the short arm of the human Y chromosome. Deletion mapping assigns one locus to the distal euchromatic long arm, another to a region close to the centromere on either Yq or Yp, and two additional loci to the Y short arm. Y-367 may thus be used for the rapid screening of even complex Y chromosome aberrations. This is exemplified in a 45,X male with Y chromosome material on the long arm of chromosome 10 by the detection of an inversion of a portion of Yp and by the confirmation of duplications and deletions in two individuals with duplications of part of the Y chromosome.
Müller
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Division of Genetics and Mental Retardation Center, Children's Hospital, Boston, MA 02115.
Fontaine
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D
Adinolfi
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Fraccaro
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Lalande
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M
D002869:Chromosome Aberrations; D015342:DNA Probes; D004262:DNA Restriction Enzymes; D005260:Female; D006801:Humans; D008297:Male; D014998:Y Chromosome
D015342:DNA Probes; D004262:DNA Restriction Enzymes