Primary amenorrhea in a woman with a cryptic complex chromosome rearrangement involving the critical regions Xp11.2 and Xq24.
OBJECTIVE
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.


METHODS
Case report.


METHODS
University faculty of Medicine and hospital.


METHODS
A 36-year-old woman with primary amenorrhea.


METHODS
Fluorescence in situ hybridization (FISH).


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Hernando
Cristina
C
Departament Biologia Cellular, Fisiologia i Immunologia, Facultat de Medicina, Universitat Autònoma de Barcelona, Barcelona, Spain.
Plaja
Alberto
A
Català
Vicens
V
Sarret
Enric
E
Egozcue
Josep
J
Fuster
Carme
C
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002877:Chromosomes, Human / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods