TY - JOUR
T1 - Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24
AU - Hernando, Cristina
AU - Plaja, Alberto
AU - Català, Vicens
AU - Sarret, Enric
AU - Egozcue, Josep
AU - Fuster, Carme
PY - 2004/12/1
Y1 - 2004/12/1
N2 - To characterize a complex chromosome rearrangement (CCR) previously detected by 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-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. The use of conventional and multiple 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, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located. © 2004 by American Society for Reproductive Medicine.
AB - To characterize a complex chromosome rearrangement (CCR) previously detected by 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-FISH probe (24 colors simultaneously) and whole chromosome painting probes for chromosomes 2, 11, 22, and X to characterize the CCR. The use of conventional and multiple 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, including 2q21, 2q31, 11q22.1, 11q22.3, 22q13.3, Xp11.21, and Xq24, were implicated in this CCR. This report confirms the importance of a combination of G-banding and FISH (M-FISH and conventional FISH) techniques to characterize the de novo CCR. These techniques also were useful in defining two possible critical chromosome regions, Xp11.21 and Xq24, in which genes of potential interest for a primary amenorrhea could be located. © 2004 by American Society for Reproductive Medicine.
KW - Chromosomal aberration
KW - FISH
KW - complex chromosome rearrangement
KW - primary amenorrhea
U2 - https://doi.org/10.1016/j.fertnstert.2004.05.085
DO - https://doi.org/10.1016/j.fertnstert.2004.05.085
M3 - Article
VL - 82
SP - 1666
EP - 1671
JO - Fertility and Sterility
JF - Fertility and Sterility
SN - 0015-0282
ER -