Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure.
OBJECTIVE
To provide a hypothesis regarding the cause of premature ovarian failure (POF) observed in a 27-year-old with a mosaic dicentric chromosome.


METHODS
Case report.


METHODS
Cytogenetics/molecular cytogenetics laboratory in a university hospital.


METHODS
A 27-year-old female with POF.


METHODS
Karyotype and fluorescence in situ hybridization.


METHODS
Metaphases were studied by standard G- and C-banding methods; fluorescence in situ hybridization method was used to characterize the abnormality.


RESULTS
Chromosome analysis detected a mosaic dicentric chromosome, psu dic (1;19)(q10;q13.42), in about 10% of metaphases from the cultured peripheral blood lymphocytes. The remaining 90% of metaphases showed normal karyotype. A repeat analysis showed the same results. Chromosome analysis from cultured skin fibroblasts showed only normal karyotype.


CONCLUSIONS
We propose two hypotheses to explain the POF seen in our patient: [1] Dicentric chromosomes, as seen in our patient, are known to cause segregation errors resulting in the breakdown/arrest of meiosis. Such a breakdown/arrest of meiosis could lead to oligomenorrhea seen in our patient. [2] The recently identified gene MATER, which is mapped at 19q13.4, could be the causative gene. MATER is a maternal effect gene that is required for early embryonic development. The gene and its protein serve as an autoantigen in a mouse model of autoimmune POF that is strikingly similar to human POF.
Northup
Jill
J
Department of Pathology, University of Texas Medical Branch, Galveston, Texas 77555-0359, USA.
Griffis
Kathleen
K
Hawkins
Judy
J
Lockhart
Lillian
L
Velagaleti
Gopalrao
G
D000328:Adult; D002869:Chromosome Aberrations; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D016649:Primary Ovarian Insufficiency / Q000235:genetics*