Related Experiment Video
Updated: Jul 7, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Klinefelter variant mosaic with a reciprocal translocation t(1;7)
Vidya Vasu1, Nallathambi Chandra, Meena Jayashankar
1Department of Genetics, Dr ALM PG Institute of Basic Medical Sciences, University of Madras, Taramani, Chennai, India.
Objective:
To determine the constitutional karyotype in a provisional diagnosis of Klinefelter syndrome.
Design:
Case report.
Setting:
University research facility in collaboration with a government hospital.
Patient(S):
Male patient with provisional diagnosis of Klinefelter syndrome.
Intervention(S):
Chromosomal analysis of phytohemagglutinin-stimulated peripheral blood lymphocytes using conventional cytogenetic techniques.
Main Outcome Measure(S):
Chromosome number and structure, hormonal profile.
Result(S):
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).
Conclusion(S):
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.
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Karyotyping
Karyotyping
Meiosis I
Non-LTR Retrotransposons
Nondisjunction
Nondisjunction

