1.
Sex Dev
; 7(4): 216-21, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23429171
RESUMO
Genetic, autoimmune, environmental, iatrogenic, and idiopathic factors are known to cause premature ovarian failure (POF). This report describes an X;11 translocation, t(X;11)(q22;q25), in a woman diagnosed with POF. The FSH level was found to be elevated. Menstrual cycle was regular initially, and she had a spontaneous abortion at the 5th month of gestation at 16 years of age. Her mother was karyotypically normal while her father was not investigated. Male carriers of X;autosome translocations are mostly infertile, and hence the translocation is presumed to be of de novo origin. Fluorescence in situ hybridization using whole chromosome paint probes confirmed the rearrangement.