To characterize a complex chromosome rearrangement (CCR) previously detected b y G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X, +mar 1 +mar2+mar3+mar4 in a patient with primary amenorrhea. Case repo...To characterize a complex chromosome rearrangement (CCR) previously detected b y G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X, +mar 1 +mar2+mar3+mar4 in a patient with primary amenorrhea. Case report. University faculty of Medicine and hospital. A 36-year-old woman with primary amenorrhea . Fluorescence in situ hybridization (FISH). Use of commercially available M-FI SH probe (24 colors simultaneously) and whole chromosome painting probes for chr omosomes 2, 11, 22, and X to characterize the CCR. The use of conventional and m ultiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G -banding and FISH data revealed that four chromosomes and seven breakpoints, in cluding 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicate d in this CCR. This report confirms the importance of a combination of G-bandin g and FISH (M-FISH and conventional FISH) techniques to characterize the de nov o CCR. These techniques also were useful in defining two possible critical chrom osome regions, Xp11.21 and Xq24, in which genes of potential interest for a prim ary amenorrhea could be located.展开更多
文摘To characterize a complex chromosome rearrangement (CCR) previously detected b y G-banding in peripheral blood lymphocytes, as 46,X,-2,-11,-22,-X, +mar 1 +mar2+mar3+mar4 in a patient with primary amenorrhea. Case report. University faculty of Medicine and hospital. A 36-year-old woman with primary amenorrhea . Fluorescence in situ hybridization (FISH). Use of commercially available M-FI SH probe (24 colors simultaneously) and whole chromosome painting probes for chr omosomes 2, 11, 22, and X to characterize the CCR. The use of conventional and m ultiple FISH allowed the redefinition of the CCR, showing a cryptic insertion of chromosome 11 in marker 3 previously suspected by M-FISH. The combination of G -banding and FISH data revealed that four chromosomes and seven breakpoints, in cluding 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicate d in this CCR. This report confirms the importance of a combination of G-bandin g and FISH (M-FISH and conventional FISH) techniques to characterize the de nov o CCR. These techniques also were useful in defining two possible critical chrom osome regions, Xp11.21 and Xq24, in which genes of potential interest for a prim ary amenorrhea could be located.
