Klinefelter variant mosaic with a reciprocal translocation t(1;7).
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.
Vasu
Vidya
V
Department of Genetics, Dr ALM PG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.
Chandra
Nallathambi
N
Jayashankar
Meena
M
Santhiya
Sathiyavedu Thyagarajan
ST
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