title: Direct insertion of euchromatic material from chromosome Y in the X-chromosome in hypogonadotropic hypogonadisms with Crohn's disease.
abstract: The relationship between chromosomal abnormalities and Crohn's disease has not been established. Crohn's disease is associated with inflammation of the bowel, severe abdominal pain and chronic diarrhea. Its etiology is not known at present. A recessive gene with incomplete penetrance is thought to be a factor which does not follow simple mendelian inheritance. We report a case, where the euchromatin material of Y chromosome (p11.1 p11.2) has been directly inserted into the long arm of the X chromosome (q21.2), and is assumed to be the most likely cause of hypogonadotropic hypogonadism in this patients. It could also be that the function of the testis-determining factor (SRY) has been disrupted due to the insertion, causing loss of testicular development.
authors.affiliation: Division of Genetics, Long Island College Hospital-SUNY Health Science Center at Brooklyn 11201-5514, USA.
authors.forename: K H
authors.initials: KH
authors.lastname: Ramesh
authors.forename: Q H
authors.initials: QH
authors.lastname: Qazi
authors.forename: R S
authors.initials: RS
authors.lastname: Verma
mesh_terms: D000293:Adolescent; D002843:Chromatin / Q000235:genetics; D002869:Chromosome Aberrations; D003424:Crohn Disease / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D022041:Euchromatin; D006062:Gonadotropins / Q000172:deficiency*; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009687:Nuclear Proteins; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014960:X Chromosome
chemical_list: D002843:Chromatin; D004268:DNA-Binding Proteins; D022041:Euchromatin; D006062:Gonadotropins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors