Objective: To characterize a complex chromosome rearrangement previously detected by G-banding in peripheral blood lymphocytes as 46,X, inv(X)(p11;q2?), inv(4)(q?),ins(8)(q?) in a patient with primary amenorrhea.
Design: Case report.
Setting: University faculty of medicine and hospital.
Patient(s): A 16-year-old girl with primary amenorrhea.
Intervention(s): Microdissection of chromosomes labeled by fluorescence in situ hybridization and by reverse painting.
Main outcome measure(s): Use of commercial whole-chromosome painting probes for the detection of the aberrant chromosomes 4, 8, and X. Fluorescence probes of the isolated derivative chromosomes are self-generated.
Result(s): The use of whole-chromosome painting probes allowed reliable identification of all chromosomes involved in the complex chromosome rearrangements. The DNA of those chromosomes was amplified and fluorescence labeled by polymerase chain reaction using degenerated oligonucleotide primers. These probes revealed breakpoints of the complex chromosome rearrangement by hybridization on normal and original chromosomes in 4q31.1, 8q24.1, Xp22.1, Xp11.4, and Xq24.
Conclusion(s): We report on an Indian patient who has premature ovarian failure with primary amenorrhea as well as a hormone level increased for LH and FSH but decreased for TSH. She has a balanced complex translocation with three breakpoints in the X chromosome that were located by fluorescence in situ hybridization by chromosome microdissection, but no breakpoints localized in the critical regions for premature ovarian failure on the X chromosome. The breakpoint in Xq24 may be associated with the amenorrhea.