It incorporates allelic information from the mother (and from the father, if available) to model a set of hypotheses that represent the different possible fetal genotypes (for example, monosomy
, disomy, or trisomy), and which take into account different genetic inheritance patterns and crossover locations for every possible copy number count.
Of course, with the basics of the 46 chromosomes of the human genome it is easy enough to recognize an addition or deletion of one or another gene or chromosome abnormality, as with trisomy or monosomy
A significantly greater percentage of the WBCs of women with PBC had X monosomy
than did those of the controls.
Other victims of a Chromosome Nine disorder have been found to have a monosomy
and some have a trisomy but Daniel is the only person known to have both.
In clinical validation studies, Panorama demonstrated a sensitivity of greater than 99% when detecting common chromosomal abnormalities such as trisomy 21, trisomy 18 and trisomy 13; and 92% when detecting monosomy
We used tag data for the X chromosome for male and aneuploid pregnancies (in euploid male fetuses or monosomy
X fetuses) and used the specific chromosome present in 3 copies (chromosomes 13, 18, or 21) when fetal aneuploidy (13, 18, or 21) was present.
The types of genetic abnormalities observed by FISH include gains (3 or more copies) of one or more chromosomes, monosomy
(1 copy), or deletions (no copies).
Aneuploidy of sex chromosomes can also occur: The presence of extra X chromosome(s) causes Klinefelter syndrome in men and Triple X syndrome in women, while monosomy
X gives rise to women with Turner syndrome.
10 and deletions of 10q (especially band q22) have been detected in leiomyoma.
Three children with an unbalanced translocation resulting in partial Trisomy 8 and partial Monosomy
12 survived in this family, and all had dysmorphic features and severe intellectual handicap.
Increases in monosomy
5 and 7; trisomy 1, 7, 8, and 21; and aneuploidy of chromosome X and t(8, 21) have been reported in lymphocytes of workers exposed to benzene at mean air concentrations of approximately 30-45 ppm compared with unexposed groups (Smith et al.
Anna's ordeal began in 2005 when a three-hour nose bleed led to her being diagnosed with myelodysplastic and monosomy
7 - a genetic disorder which severely restricts the blood cell production.