Sex chromosome marker: Clinical significance and DNA characterization

V. P. Johnson, P. G. McDonough, S. W. Cheung, L. Sun

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Two patients are described with a virtually identical marker sex chromosome that was so small as to defy classification by conventional cytogenetic studies. DNA hybridization with Y probes allows classification into Y or non-Y, and in situ hybridization with X centromere specific sequences, into X or non-X. One patient was proven to have a Y fragment, and the second, an X fragment. DNA characterization is important since prognosis and clinical management depends on proper identification of the small marker sex chromosome.

Original languageEnglish (US)
Pages (from-to)97-101
Number of pages5
JournalAmerican Journal of Medical Genetics
Volume39
Issue number1
DOIs
StatePublished - Jan 1 1991

Fingerprint

Sex Chromosomes
Genetic Markers
Centromere
DNA
Cytogenetics
In Situ Hybridization
fibrinogen fragment X

Keywords

  • DNA hybridization
  • in situ hybridization
  • restriction fragment
  • short stature
  • Ullrich-Turner syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Sex chromosome marker : Clinical significance and DNA characterization. / Johnson, V. P.; McDonough, P. G.; Cheung, S. W.; Sun, L.

In: American Journal of Medical Genetics, Vol. 39, No. 1, 01.01.1991, p. 97-101.

Research output: Contribution to journalArticle

Johnson, V. P. ; McDonough, P. G. ; Cheung, S. W. ; Sun, L. / Sex chromosome marker : Clinical significance and DNA characterization. In: American Journal of Medical Genetics. 1991 ; Vol. 39, No. 1. pp. 97-101.
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