title: Telomere aggregates in trisomy 21 amniocytes.
abstract: Trisomy 21 is the most common chromosomal abnormality among persons with intellectual disability, with a live birth rate of 1 in 800-1,000. As such, this abnormality may serve as a model for human disorders that result from supernumerary copies of a genomic region. Down syndrome carries an increased risk of developing acute leukemia and other malignancies. Telomeres of tumor cells nuclei tend to form aggregates (TA). This study evaluated TA formation in amniocytes from trisomy 21 pregnancies, compared with amniocytes from normal euploid pregnancies. A commercially available peptide nucleic acid telomere kit was used to evaluate TA formation, using two-dimensional fluorescence microscopy. Significantly higher frequencies of TA were found in trisomy 21 amniocytes than in amniocytes from normal pregnancies. The TAs found in trisomy 21 amniocytes apparently represent an additional parameter that reflects the high genetic instability of this syndrome and its recognized predisposition to develop leukemia and other malignancies.
authors.affiliation: Department of Obstetrics and Gynecology, Meir Hospital, Kfar Saba, Israel.
authors.forename: Efrat
authors.initials: E
authors.lastname: Hadi
authors.forename: Reuven
authors.initials: R
authors.lastname: Sharony
authors.forename: Lilach
authors.initials: L
authors.lastname: Goldberg-Bittman
authors.forename: Tal
authors.initials: T
authors.lastname: Biron-Shental
authors.forename: Moshe
authors.initials: M
authors.lastname: Fejgin
authors.forename: Aliza
authors.initials: A
authors.lastname: Amiel
mesh_terms: D000653:Amniotic Fluid / Q000166:cytology / Q000502:physiology*; D016022:Case-Control Studies; D002478:Cells, Cultured; D004171:Diploidy; D004314:Down Syndrome / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008856:Microscopy, Fluorescence; D011247:Pregnancy; D016615:Telomere / Q000648:ultrastructure*