PT  - JOURNAL ARTICLE
AU  - Varella-Garcia, M
AU  - Tajara, E H
AU  - Gagliardi, A R
TI  - Structural aberration of the X chromosome in a patient with gonadal dysgenesis: an approach to karyotype-phenotype correlation.
AID  - 10.1136/jmg.18.3.228
DP  - 1981 Jun 01
TA  - Journal of Medical Genetics
PG  - 228--231
VI  - 18
IP  - 3
4099  - http://jmg.bmj.com/content/18/3/228.short
4100  - http://jmg.bmj.com/content/18/3/228.full
SO  - J Med Genet1981 Jun 01; 18
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.