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
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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 -