title: Translocation t(X;11)(q22;q25) in a woman with premature ovarian failure.
abstract: 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.
authors: Department of Genetics, Dr. ALMPG Institute of Basic Medical Sciences, University of Madras, Chennai, India.
authors: B
authors: B
authors: Saranya
authors: D
authors: D
authors: Kavitha Devi
authors: R S
authors: RS
authors: Chandra
authors: M
authors: M
authors: Jayashankar
authors: S T
authors: ST
authors: Santhiya
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic