RT Journal Article
SR Electronic
T1 Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 228
OP 231
DO 10.1136/jmg.18.3.228
VO 18
IS 3
A1 Varella-Garcia, M
A1 Tajara, E H
A1 Gagliardi, A R
YR 1981
UL http://jmg.bmj.com/content/18/3/228.abstract
AB An 18-year-old female with some stigmata of pure dysgenesis had a chromosome constitution of 46,X,dir dup(X) (pter leads to q27: :q21 leads to qter). The abnormal chromosome was always late replicating. The clinical and cytogenetic picture is compared with that of patients with X;X translocation and some problems of karyotype-phenotype correlation are discussed.