Ectopic nucleolus organizer regions in a patient with premature ovarian failure.
OBJECTIVE
To present a case of premature ovarian failure (POF) and a complex chromosomal rearrangement involving band Xq21.


METHODS
Case report.


METHODS
Department of cytogenetics, general analysis laboratory.


METHODS
A woman with POF and a complex translocation involving chromosomes X and 2 and a nucleolus organizer region (NOR) structure inserted in the critical region Xq21.


METHODS
Chromosomal analysis, NOR banding, hysteroscopy.


METHODS
Fluorescence in situ hybridization, comparative genome hybridization, human androgen receptor gene technique.


RESULTS
Four mechanisms may explain a causal relationship between the phenotype of the patient and her chromosome constitution. The presence of a NOR structure at the breakpoint of chromosome X suggests a complex reorganization and is of interest per se.


CONCLUSIONS
Cytogenetic analysis is essential in women with unexplained POF and may provide valuable information on the chromosome location of critical regions implicated in ovarian function. However, in very complex reorganizations such as that described herein, classical cytogenetic techniques must be combined with molecular techniques to achieve a more complete characterization of the anomaly.
Lloveras
Elisabet
E
Departament de Citogenètica, General Lab-Laboratoris d'Anàlisi, Barcelona, Spain. elilloveras@yahoo.es
Zamora
Lurdes
L
Pérez
Cristina
C
Fuster
Carme
C
Andreu
Sandra
S
Plaja
Alberto
A
D000328:Adult; D002869:Chromosome Aberrations; D002877:Chromosomes, Human / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D005260:Female; D006801:Humans; D009697:Nucleolus Organizer Region / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014178:Translocation, Genetic / Q000235:genetics*