Homologous telomere association of 19q in a female with premature ovarian failure.
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.
Zahed
L
L
Department of Pathology and Laboratory Medicine, American University of Beirut, Beirut, Lebanon. lailaz@aub.edu.lb
Darwiche
N
N
Batanian
J R
JR
Awwad
J
J
D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D008677:Metaphase / Q000235:genetics; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D016615:Telomere / Q000235:genetics*