Sex chromosome marker: Clinical significance and DNA characterization

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

doi:10.1002/ajmg.1320390121

Sex chromosome marker: Clinical significance and DNA characterization

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

Physiology

Research output: Contribution to journal › Article

7 Scopus citations

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 language	English (US)
Pages (from-to)	97-101
Number of pages	5
Journal	American Journal of Medical Genetics
Volume	39
Issue number	1
DOIs	https://doi.org/10.1002/ajmg.1320390121
Publication status	Published - Jan 1 1991

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Keywords

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

ASJC Scopus subject areas

Genetics(clinical)

Cite this

Johnson, V. P., McDonough, P. G., Cheung, S. W., & Sun, L. (1991). Sex chromosome marker: Clinical significance and DNA characterization. American Journal of Medical Genetics, 39(1), 97-101. https://doi.org/10.1002/ajmg.1320390121

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10.1002/ajmg.1320390121