Although trisomy of chromosome 21 is the most prevalent human genetic disorder, data from partial 21 aneuploidies are very scanty. Eight different partial aneuploidies for chromosome 21 were characterised by fluorescence quantitative PCR. Allelic dosage analysis was performed for each patient using 25 CHLC STRs covering the entire q arm. The length of the corresponding trisomies and monosomies ...

The pseudoautosomal region (PAR) is a unique and specialized segment on the mammalian sex chromosomes with known functions in male meiosis and fertility. Detailed molecular studies of the region in human and mouse show dramatic differences between the 2 PARs. Recent mapping efforts in horse, dog/cat, cattle/ruminants, pig and alpaca indicate that the PAR also varies in size and gene content bet...

Numerical abnormalities of karyotype are the result genome mutations. Unlike gene and chromosomal abnormalities, mutations do not disrupt structure DNA or chromosomes. The cause numerical changes in is a violation mechanism chromosome segregation during meiosis mitosis. Like other mutations, natural for increasing genetic diversity offspring. At same time, humans usually have negative effects a...

This review systematizes scientific data on the possibilities and limitations of combined prenatal screening for detecting common chromosomal abnormalities (CA) in first trimester pregnancy, as well an innovative technology – non-invasive test (NIPT) based free fetal DNA fraction. A current clinical guidelines place NIPT models screening, experience various countries implementation national pro...

A recently published human study suggested that exposure to formaldehyde (FA) at the workplace might induce leukemia-specific aneuploidies (monosomy 7 and trisomy 8) in cultured myeloid progenitor cells. Despite its preliminary character, this study was considered by the International Agency for Research on Cancer to be a potential mechanistic explanation for the induction of leukemia by FA. To...

OBJECTIVE To investigate whether the maternal serum concentration of placental protein 13 (PP13) is altered in chromosomally abnormal pregnancies and to examine the potential value of this placental protein in screening for aneuploidies at 11-13 weeks. METHODS The maternal serum concentration of PP13 at 11-13 weeks was compared in 536 euploid and 134 aneuploid pregnancies (trisomy 21: n = 49;...

Current screening for fetal aneuploidies relies on biochemical and ultrasound measurements, and the sensitivity and specificity needs to be improved to reduce the number of pregnant women subjected to invasive diagnostic procedures, such as amniocentesis. Proteomic technologies enable new strategies for discovering biomarkers from complex biological fluids in a high-throughput and sensitive man...

Candida albicans, the most prevalent human fungal pathogen, is generally diploid. However, 50% of isolates that are resistant to fluconazole (FLC), the most widely used antifungal, are aneuploid and some aneuploidies can confer FLC resistance. To ask if FLC exposure causes or only selects for aneuploidy, we analyzed diploid strains during exposure to FLC using flow cytometry and epifluorescence...

Aneuploidy arising early in development is the leading genetic cause of birth defects and developmental disabilities in humans. Most errors in chromosome number originate from the egg, and maternal age is well established as the key risk factor. Although the importance of this problem for reproductive health is widely recognized, the underlying molecular basis for age-related aneuploidy in fema...