monosomy X

monosomy X

A synonym sometimes used for gonadal dysgenesis.
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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 (Turner's syndrome).
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 (Turner's syndrome).
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 (Turner's syndrome).