The positive predictive value in this cohort was 95.2% for trisomy 21, 93.5% for trisomy 18, 77.9% for trisomy 13, and 86.7% for monosomy X
. The PPV was similar for both high-risk and average risk pregnancies, consistent with a previous study.
This syndrome is a common form of hypogonadism in women; 1 in every 2,500 female neonates is born with monosomy X. Monosomy X according to chromosomal analysis is comprised of homogeneous monosomy X (53.33% of cases), monosomy X mosaicism (22.52% of cases), partial monosomy X (20.36% of cases), and other forms (3.79% of cases).
Reports on trisomy 21 combined with Turner syndrome have demonstrated different cytogenetic variants, the most frequent of which is the mosaicism of 2 clonal lines: 1 clone with trisomy 21 and 1 with monosomy X, with an incidence of 1 in 2,000,000 births.
We report a case of gonadal dysgenesis revealed monosomy X associated with a novo translocation (13,14).
50% of patients with Turner syndrome have nonmosaic monosomy X (45X0) [1, 5].
Panorama's unique technology enables it to determine zygosity and each twin's gender while also allowing it to identify risk for more genetic conditions in twin pregnancies than other NIPTs, including monosomy X
, sex chromosome trisomies, and 22q11.2 deletion syndrome.
Panorama detects trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), as well as sex chromosome abnormalities, including monosomy X
The product was introduced in March 2013 for the detection of trisomy 21, trisomy 18, trisomy 13 and certain sex chromosome abnormalities, such as monosomy X
They suggested that even though PBC is not common in women with the monosomy X
condition in Turner's syndrome, it may be that "autoimmune diseases require mutations in several genes in different chromosomes.
It also features an option for X and Y chromosome analysis, giving information on sex chromosome conditions, such as Monosomy X
or Klinefelter's syndrome, and fetal sex.
The test detects trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome) and select sex chromosome abnormalities, such as monosomy X
The test, introduced in March, detects trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), trisomy 13 (Patau syndrome), as well as sex chromosome abnormalities, including monosomy X