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 | |
| State | Published - Jan 1 1991 |
Keywords
- DNA hybridization
- in situ hybridization
- restriction fragment
- short stature
- Ullrich-Turner syndrome
ASJC Scopus subject areas
- Genetics(clinical)
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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