Monosomy


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Related to Monosomy: terminal deletion, Partial monosomy

monosomy

[′män·ə‚sōm·ē]
(genetics)
The condition in which one chromosome of a pair is missing a diploid organism.

Monosomy

 

the absence of one chromosome from the complement of a diploid organism. A monosomic is a cell or organism which has a single chromosome of a homologous pair. Monosomy is the result of disruption during the separation of homologous chromosomes. It occurs most often in the sex cells during meiosis but is also possible in the somatic cells during mitosis. For example, individuals suffering from Turner’s syndrome (Shereshevskii-Turner syndrome) are monosomics for the X chromosome.

References in periodicals archive ?
Etiology of primary premature ovarian insufficiency Genetic causes * FSH receptor mutation, transcription factor mutation * Fragile X chromosome * Structural alteration and monosomy of the X chromosome * Chromosome X trisomy with or without mosaicism * Myotonic dystrophy Enzyme * 17a hydroxylase deficiency deficiency * Galactosemia Gonadotropin * Biologically inactive gonadotropin structure/acting * [alpha] and [beta] subgroup deficiency deficiency * Receptor/post-receptor deficiency Idiopathic * Unknown cause Table 2.
Ipilimumab is being evaluated as a systemic adjuvant therapy following treatment of the primary tumor in patients identified as class 2 by RNA analysis, exhibiting monosomy 3 on DNA analysis, or having a tumor over 8 mm in thickness.
Bianchi said that the highest risk group is that of women with multiple aneuploidies, "or suspiciously a single autosomal monosomy," the type of cases that "may warrant more detailed analysis of the whole genome.
Kathryn | before a " Last Monday Kathryn marked seven years since she was diagnosed with Acute Myelogenous Leukaemia with Monosomy 7, and her world changed forever.
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 unbalanced distribution of the chromosomes involved in the translocation, leads to partial trisomy for one chromosome and partial monosomy for the other chromosome (6).
1) About 80% of EPL will occur prior to 12 weeks gestation and about 50% of the cases of spontaneous abortion are attributed to chromosomal abnormalities such as trisoomy, monosomy, and other forms of aneuploidy.
CD34 +, CD33 +, HLA-DR-, CD61-, CD41-, CD14-, CD235-, CD19-, CD22-, CD10-, CD20-, CD8 -, CD4-, CD5 +, CD3ic-, MPOic +, CD22-; the cytogenetic examination found the presence of monosomy 8, and molecular biology tests have shown the absence of AML 1-ETO, FLT3-ITD, NPM, PML-RARa mutations.
The karyotype showed trisomy of chromosome 8 and monosomy of chromosome 15.
2-3) When including sex chromosome aneuploidies, such as Monosomy X (Turner syndrome), this increases to approximately 1 in 250 live births.