Prognostic implications of
monosomy 3 in uveal melanoma.
In the first case, described in 2013, a 37-year-old woman underwent noninvasive prenatal testing (NIPT) at 13 weeks of gestation and received a test report of "aneuploidy detected, trisomy 13 and
monosomy 18" (7).
[46] compared the mean Functional Assessment of Cancer Therapy-General (FACT-G) scores [47] and the HADS scores of 411 patients with UM with the normative values of the same scales in an already published population, at 6 months, 1 year, and 2 years after treatment, testing the association of these scores with gender, age, enucleation, and
monosomy 3.
Chromosome studies on blood lymphocytes were studied by conventional cytogenetics, with an analysis of 50 mitosis, which showed
monosomy of chromosome X (45X) with the presence of a subpopulation with a derived of the chromosome 14 probably by (13,14) translocation.
His CMA revealed partial trisomy of 12p and partial
monosomy of 18q.
Our results confirmed high EVI1 expression as a poor prognostic factor in AML and also showed inverse correlation of high EVI1 expression and NPM1 mutation, and on the other hand significant association of high EVI1 expression with
monosomy 7 [43, 44].
###One
monosomy and inv(3) of 3q, t(3;3) and del(5q)###Meyer et al.
We reported a case of a girl with trisomy for the distal part of the long arm of chromosome 5 (5q35.2-->qter) and a concomitant
monosomy 2 (2q37.1-->qter) last year.
NIPT is used for screening pregnant women at high risk of developing fetal chromosomal aneuploidies such as Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and Turner syndrome (
monosomy X) along with fetal sex determination.
A diagnosis of myelodysplastic syndrome with excess blasts-2 (MDS-EB-2) was made based on a bone marrow smear with dysplastic features, blast count of 11%, and karyotype with
monosomy 7 in 14 of 20 metaphases.
Monosomy X (45,X) is the most common overall karyotype, encountered in approximately 45% of diagnosed cases, whereas the most common X chromosome structural defect is the isochromosome 46,X,i(X)(q10) that comprises approximately 15-18% of total cases of TS [3].
Molecular genetics techniques such as fluorescence in situ hybridization (FISH) demonstrating variable
monosomy for chromosome 1, 2, 6, 10,13,17,21, or Y can be very valuable in diagnosing and help in distinguishing ChRCC from other mimickers, particularly oncocytoma, which shows no chromosomal loss.
