Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure

Jill Northup, Kathleen Griffis, Judy Hawkins, Lillian Lockhart, Gopalrao Velagaleti

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Objective: To provide a hypothesis regarding the cause of premature ovarian failure (POF) observed in a 27-year-old with a mosaic dicentric chromosome. Design: Case report. Setting: Cytogenetics/molecular cytogenetics laboratory in a university hospital. Patient(s): A 27-year-old female with POF. Intervention(s): Karyotype and fluorescence in situ hybridization. Main Outcome Measure(s): Metaphases were studied by standard G- and C-banding methods; fluorescence in situ hybridization method was used to characterize the abnormality. Result(s): 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. Conclusion(s): 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.

Original languageEnglish (US)
JournalFertility and Sterility
Volume87
Issue number3
DOIs
StatePublished - Mar 2007

Fingerprint

Primary Ovarian Insufficiency
Metaphase
Chromosomes
Karyotype
Meiosis
Fluorescence In Situ Hybridization
Cytogenetics
Oligomenorrhea
Genes
Chromosomes, Human, Pair 1
Autoantigens
Embryonic Development
Fibroblasts
Outcome Assessment (Health Care)
Lymphocytes
Skin
Proteins

Keywords

  • dicentric chromosome
  • MATER
  • mosaicism
  • premature ovarian failure

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure. / Northup, Jill; Griffis, Kathleen; Hawkins, Judy; Lockhart, Lillian; Velagaleti, Gopalrao.

In: Fertility and Sterility, Vol. 87, No. 3, 03.2007.

Research output: Contribution to journalArticle

Northup, Jill ; Griffis, Kathleen ; Hawkins, Judy ; Lockhart, Lillian ; Velagaleti, Gopalrao. / Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure. In: Fertility and Sterility. 2007 ; Vol. 87, No. 3.
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