monosomy


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Related to monosomy: terminal deletion, Partial monosomy

mon·o·some

 (mŏn′ə-sōm′)
n.
1. A chromosome having no homologue, especially an unpaired X chromosome.
2. A single ribosome.
mon′o·so′mic (-sō′mĭk) adj.
mon′o·so′my n.
American Heritage® Dictionary of the English Language, Fifth Edition. Copyright © 2016 by Houghton Mifflin Harcourt Publishing Company. Published by Houghton Mifflin Harcourt Publishing Company. All rights reserved.

monosomy

(ˈmɒnəˌsəʊmɪ)
n
(Genetics) genetics the condition of lacking one member of a chromosomal pairing
Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.monosomy - chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
chromosomal aberration, chromosomal anomaly, chromosonal disorder, chrosomal abnormality - any change in the normal structure or number of chromosomes; often results in physical or mental abnormalities
Based on WordNet 3.0, Farlex clipart collection. © 2003-2012 Princeton University, Farlex Inc.
Translations
Monosomie
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References in periodicals archive ?
The aim of such testing is to reveal an early state of genetic disorders such as trisomy 21 (Down syndrome), trisomy 18 (Edward syndrome), trisomy 13 (Patau syndrome), and monosomy X (Turner syndrome).
United States Non-Invasive Prenatal Testing Market 2019 - Industry Analysis, Size, Share, Key Players, Applications, Strategies and Forecast to 2026
There are many reports with microscopic monosomy 18p in the literature, but to our knowledge, this is the first submicroscopic deletion on 18p detected at antenatal period.
APPLICATION OF MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) IN FETUSES WITH AN ABNORMAL SONOGRAM AND NORMAL KARYOTYPE: NORMAL KARYOTIPLI PATOLOJIK ULTRASON BULGUSU OLAN FETUSLARDA MLPA (MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION) UYGULAMALARI
The CMA of the proband revealed two CNV: a loss of the entire chromosome X (~155 Mb) indicative of monosomy X and a 4.69 Mb copy number loss on 1q31 .2q31 .3 (bp 192, 715, 814 to 197, 401,180) (Figure 3).
Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome
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.
Natera: Study shows high predictive values in determining genetic abnormalities
No specific karyotypic abnormality is yet known to be associated with BPDCN, but six recurrent cytogenetic alterations involving 5q (72%), 12p (64%), 13q (64%), 6q (50%), 15q (43%), and monosomy 9 (28%) have been previously proposed by Leroux et al.
Blastic Plasmacytoid Dendritic Cell Neoplasm; A Report of Three Cases
Cytogenetic analyses have reported trisomy 21, monosomy 5, and 5q deletion in AML in the context of familial platelet disorder.
Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists
For example, if a person is missing one of the chromosomes from a pair, this is called monosomy. An example of monosomy is Turner syndrome in which a patient is missing one chromosome and is characterized by short stature besides other difficulties.
A Six-year Analysis Report at the Cytogenetics Department of National Institute of Health Islamabad, Pakistan
If patients are not lost from infections, cytogenetic changes can occur such as G-CSF receptor mutations in 12% and monosomy 7 in 50%.
Neutropenic Fever in a Two-and-a-Half Month Old Girl: Severe Congenital Neutropenia
Particularly monosomy of chromosomes 14 and 22 as well as deletions of 1p are well known.
PRE-OPERATIVE PREPARATION OF A PATIENT WITH DISSEMINATED GIST
Chromosome 9p deletion syndrome (OMIM#158170) is a well-known disorder, a structural monosomy occurring with loss of a part of 9p of varying size.
Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development
For instance, monosomy of chromosome 3 and gain of 8q are often found in UMs.[15],[16] Multiple common driver mutations have also been identified in UM including BAP1 , EIF1AX , GNA11 , GNAQ , and SF3B1 .[17],[18],[19] Specifically, BAP1 , EIF1AX , and SF3B1 mutations are mutually exclusive during UM progression, and BAP1 mutations showed the most significant association with UM metastasis.[20] Meanwhile, epigenetic alteration such as changes in microRNAs and long ncRNAs also plays a role in the development and metastasis of UMs.[21],[22]
DNA Methylation and Uveal Melanoma
Figure 2b shows the expected value of the ratio for euploid, monosomy, and trisomy samples.
Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India/Segmental duplikasyon-kantitatif floresan polimeraz zincir reaksiyonu: Hindistan'da Down sendromu tanisina yonelik bir yaklasim

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