Vaginal uterine agenesis associated with amastia in a phenotypic female with a de novo 46,XX,t(8;13)(q22.1;q32.1) translocation.
Amesse
L
L
Yen
F F
FF
Weisskopf
B
B
Hertweck
S P
SP
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001940:Breast / Q000002:abnormalities*; D002874:Chromosome Mapping; D002882:Chromosomes, Human, Pair 13; D002898:Chromosomes, Human, Pair 8; D005260:Female; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities*