Literature DB >> 12372059

Homologous telomere association of 19q in a female with premature ovarian failure.

L Zahed1, N Darwiche, J R Batanian, J Awwad.   

Abstract

Premature ovarian failure (POF) may be due to a variety of genetic mechanisms. We report here, for the first time, telomere association of the long arms of chromosome 19, identified at low frequency (1%) in the peripheral blood cultures of a 30-year-old female with POF. Repeat cultures identified, in addition, the presence of 16q and 22q associations at a lower frequency (0.5%). These consistent observations are suggestive of a non-random event. Their association with POF may just be coincidental or may hypothetically explain it by an abnormal mechanism of chromosome separation, a constitutional telomere anomaly or an unidentified chromosome instability disorder.

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Year:  2002        PMID: 12372059     DOI: 10.1034/j.1399-0004.2002.620410.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  2 in total

1.  Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.

Authors:  Zafer Cetin; Mesut Parlak; Ozden Altiok Clark; Gungor Karaguzel; Guven Luleci; Iffet Bircan; Sibel Berker-Karauzum
Journal:  Eur J Pediatr       Date:  2013-05-08       Impact factor: 3.183

2.  Variability in the incidence of miRNAs and genes in fragile sites and the role of repeats and CpG islands in the distribution of genetic material.

Authors:  Alessandro Laganà; Francesco Russo; Catarina Sismeiro; Rosalba Giugno; Alfredo Pulvirenti; Alfredo Ferro
Journal:  PLoS One       Date:  2010-06-17       Impact factor: 3.240

  2 in total

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