title: Klinefelter variant mosaic with a reciprocal translocation t(1;7).
abstract: OBJECTIVE
  To determine the constitutional karyotype in a provisional diagnosis of Klinefelter syndrome.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University research facility in collaboration with a government hospital.
  
  
  METHODS
  Male patient with provisional diagnosis of Klinefelter syndrome.
  
  
  METHODS
  Chromosomal analysis of phytohemagglutinin-stimulated peripheral blood lymphocytes using conventional cytogenetic techniques.
  
  
  METHODS
  Chromosome number and structure, hormonal profile.
  
  
  RESULTS
  Analysis of GTG-banded metaphases of the proband revealed the karyotype to be mos 48,XXXY,t(1;7)(q42;q32)pat[71%]/47,XXY,t(1;7)(q42;q32)pat[29%]. This is the first report of its kind, to the best of our knowledge. His father and elder brother were also found to be carriers of the same translocation with the karyotype 46,XY,t(1;7)(q42;q32).
  
  
  CONCLUSIONS
  An alternate segregation of the translocation t(1;7) in spermatogenesis could have led to meiotic nondisjunction, thus supporting the hypothesis of interchromosomal effect. This case study truly emphasizes the clinical relevance of cytogenetic diagnosis in the better management of genetic disorders.
authors.affiliation: Department of Genetics, Dr ALM PG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.
authors.forename: Vidya
authors.initials: V
authors.lastname: Vasu
authors.forename: Nallathambi
authors.initials: N
authors.lastname: Chandra
authors.forename: Meena
authors.initials: M
authors.lastname: Jayashankar
authors.forename: Sathiyavedu Thyagarajan
authors.initials: ST
authors.lastname: Santhiya
mesh_terms: D000293:Adolescent; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010375:Pedigree; D014178:Translocation, Genetic