Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe

R. Ellen Magenis, Myriam Casanova, Marc Fellous, Susan Olson, Robert Sheehy

Research output: Contribution to journalArticle

23 Citations (Scopus)

Abstract

Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.

Original languageEnglish (US)
Pages (from-to)228-233
Number of pages6
JournalHuman Genetics
Volume75
Issue number3
DOIs
StatePublished - Mar 1987

Fingerprint

In Situ Hybridization
Sex Chromosome Aberrations
Chromosomes
Tritium
Metaphase
Cytogenetics
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. / Magenis, R. Ellen; Casanova, Myriam; Fellous, Marc; Olson, Susan; Sheehy, Robert.

In: Human Genetics, Vol. 75, No. 3, 03.1987, p. 228-233.

Research output: Contribution to journalArticle

Magenis, R. Ellen ; Casanova, Myriam ; Fellous, Marc ; Olson, Susan ; Sheehy, Robert. / Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. In: Human Genetics. 1987 ; Vol. 75, No. 3. pp. 228-233.
@article{7dfec790ff3040d0a7682039d4ed83a4,
title = "Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe",
abstract = "Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8{\%} and 9.5{\%} of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.",
author = "Magenis, {R. Ellen} and Myriam Casanova and Marc Fellous and Susan Olson and Robert Sheehy",
year = "1987",
month = "3",
doi = "10.1007/BF00281064",
language = "English (US)",
volume = "75",
pages = "228--233",
journal = "Human Genetics",
issn = "0340-6717",
publisher = "Springer Verlag",
number = "3",

}

TY - JOUR

T1 - Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe

AU - Magenis, R. Ellen

AU - Casanova, Myriam

AU - Fellous, Marc

AU - Olson, Susan

AU - Sheehy, Robert

PY - 1987/3

Y1 - 1987/3

N2 - Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.

AB - Chromosome preparations from seven subjects with aberrations of sex chromosomes were utilized for in situ hybridization studies with the tritium-labeled Y-derived probe p50f. Two subjects had a pseudodicentric chromosome consisting of two copies of Yp and a portion of Y long arm; two were XX males [46,XX,t(Xp;Yp)], one was missing part of the Y short arm, and another had t(5p;Yq); in addition cells from an XYY male as well as a normal 46,XY male, and a 46,XX female, were hybridized with the same probe. The hybridization technique of Harper and Saunders (1981) was used. There was excess labeling of the Yp/paracentromeric regions in the cases with the normal Y, the XYY, the pseudodicentric Y, and the 5/Y translocation. No significant label was seen on metaphases from the normal 46,XX female or the female with the partially missing Y short arm. Excess label was present on the X short arm in the cases of the XX males; there were 8% and 9.5% of cells with label. The combined cytogenetic and hybridization data indicate that one X short arm in these XX males has undergone a translocation with Yp, and that genes for sex determination probably reside on the distal half of the Y short arm.

UR - http://www.scopus.com/inward/record.url?scp=0023127116&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0023127116&partnerID=8YFLogxK

U2 - 10.1007/BF00281064

DO - 10.1007/BF00281064

M3 - Article

VL - 75

SP - 228

EP - 233

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 3

ER -