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 |
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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
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 journal › Article
}
TY - JOUR
T1 - Sex chromosome marker
T2 - Clinical significance and DNA characterization
AU - Johnson, V. P.
AU - McDonough, P. G.
AU - Cheung, S. W.
AU - Sun, L.
PY - 1991/1/1
Y1 - 1991/1/1
N2 - 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.
AB - 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.
KW - DNA hybridization
KW - in situ hybridization
KW - restriction fragment
KW - short stature
KW - Ullrich-Turner syndrome
UR - http://www.scopus.com/inward/record.url?scp=0025796765&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025796765&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320390121
DO - 10.1002/ajmg.1320390121
M3 - Article
C2 - 1867271
AN - SCOPUS:0025796765
VL - 39
SP - 97
EP - 101
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -