monosomy


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Related to monosomy: terminal deletion, Partial monosomy

monosomy

 [mon″o-so´me]
existence in a cell of only one instead of the normal diploid pair of a particular chromosome, seen in Turner's syndrome,monosomy 9p disease, and various other conditions. adj., adj monoso´mic.
monosomy 9p syndrome a rare chromosomal disorder in which a piece of the short arm of the ninth chromosome is broken and often lost. Symptoms include mental retardation, a triangular head with forward angulation of the frontal bone, and various other physical deformities. A support group for more information on this syndrome can be reached at 43304 Kipton Nickel Plate Road, La Grange, OH 44050.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

mon·o·so·my

(mon'ō-sō'mē),
Absence of one chromosome of a pair of homologous chromosomes.
See also: chromosomal deletion.
[see monosome]
Farlex Partner Medical Dictionary © Farlex 2012

monosomy

(1) A type of aneuploidy, defined by the formula 2n – 1, where n is the haploid number. (E.g., Turner syndrome or monosomy X.)
(2) The state of having a single chromosome of a particular type; lacking a homologous chromosome (e.g., normal males are monosomic for the X chromosome).
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

monosomy

Genetics A type of aneuploidy defined by the formula 2n – 1, where n is the haploid number–eg, Turner syndrome or monosomy X. See Aneuploidy.
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

mon·o·so·my

(mon'ō-sō'mē)
Absence of one chromosome of a pair of homologous chromosomes.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

monosomy

The absence of one complete AUTOSOMAL chromosome of a pair. This is a lethal condition. Compare TRISOMY as in DOWN'S SYNDROME.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

chromosome 

One of the thread-like structures located within the cell nucleus composed of an extremely long, double-stranded DNA (deoxyribonucleic acid) helix tightly folded around proteins called histones. Each chromosome carries genes that contain the hereditary material that controls the growth and characteristics of the body. There are 46 chromosomes in each human somatic cell organized in 23 pairs, of which 22 pairs are similar in appearance but differ at the molecular level. They are called autosomal chromosomes or autosomes and are designated by a number (with chromosome 1 being the longest, followed by chromosome 2, etc.). The other pair, the sex chromosomes determines the sex of the individual. In mammals the two sex chromosomes of females are alike (homologous) and are referred to as X chromosomes. Males carry one X chromosome along with a much shorter chromosome, the Y chromosome. Each chromosome has a centromere that divides it into two arms, the short arm 'p' and the long arm 'q'. Disorders of chromosome number in which the number of chromosomes is above or below the normal (46) are called aneuploidy. Common forms of aneuploidy are trisomy in which there is one extra chromosome and monosomy in which there is one less, than the normal 46. They rarely cause specific eye diseases but affected individuals present ocular manifestations. Examples: Down's syndrome (trisomy of chromosome 21), Edwards' syndrome (trisomy 18), Turner's syndrome (monosomy 45 XO). There are other chromosome abnormalities such as translocation (one segment of a chromosome is transferred to another chromosome) as may occur in congenital anterior polar cataract, deletion (a loss of a piece of chromosome) as in aniridia, choroideremia, retinoblastoma, etc. Other cases involve damage of a chromosome (e.g. fragile X syndrome). See defective colour vision; gene; mitosis; mutation.
Millodot: Dictionary of Optometry and Visual Science, 7th edition. © 2009 Butterworth-Heinemann
References in periodicals archive ?
Monosomy 3 and isochromosome 8q in a uveal melanoma.
Although the therapeutic options available for metastatic UM are still limited, studies are concordant in finding that patients usually request the prognostic information about their UM at the time of diagnosis, in order to better plan their management, with no significant impact on their depression/anxiety levels nor on their subjectively perceived QoL, even when monosomy 3 is confirmed.
50% of patients with Turner syndrome have nonmosaic monosomy X (45X0) [1, 5].
Partial trisomy 4q A is usually seen with autosomal monosomy; however, concomitant partial monosomy 21 is not reported in literature.
[10] have reported that approximately 83% of females with 46,X,i(X)(q10) have autoimmune thyroiditis, compared to 45% of females with monosomy X and 24% with mosaic TS.
Fluorescence in situ hybridization analysis was carried out using the AML/MDS panel consisting of probes to detect monosomy 5/5q deletion, monosomy 7/7q deletion, trisomy 8, monosomy 20/20q deletion, MLL gene rearrangement, t(8;21), t(15;17), and inv(16) (Cytocell UK Ltd., Windsor, Ct).
Chromosomal analysis by G banding showed monosomy 7 in 14 out of 20 metaphase cells and additional add(1)(q21) in 4 out of 20 metaphase cells analyzed (Figure 2(c)).
Onda et al., "Arsenic disulfide induced apoptosis and concurrently promoted erythroid differentiation in cytokine-dependent myelodysplastic syndrome-progressed leukemia cell line F-36p with complex karyotype including monosomy 7," Chinese Journal of Integrative Medicine, vol.
Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome.
[5] High efficacy has also been reported by test manufacturers for monosomy X, sex chromosome trisomies and, for some tests, triploidy.
(8) As many as 53.6% of patients carry a chromosomal abnormality, most commonly monosomy 7 or trisomy 8.