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) |
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Pages (from-to) | 97-101 |
Number of pages | 5 |
Journal | American Journal of Medical Genetics |
Volume | 39 |
Issue number | 1 |
DOIs | |
State | Published - 1991 |
Externally published | Yes |
Keywords
- DNA hybridization
- Ullrich-Turner syndrome
- in situ hybridization
- restriction fragment
- short stature
ASJC Scopus subject areas
- Genetics(clinical)