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Monosomy is a form of aneuploidy with the presence of only one
Monosomy is a form of aneuploidy with the presence of only one chromosome
A chromosome is a package of DNA containing part or all of the genetic material of an organism. In most chromosomes, the very long thin DNA fibers are coated with nucleosome-forming packaging proteins; in eukaryotic cells, the most import ...
from a pair. Partial monosomy occurs when a portion of one chromosome in a pair is missing.
Human monosomy
Human conditions due to monosomy: * Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development. * Cri du chat syndrome – (French for "cry of the cat" after the persons' malformedlarynx
The larynx (), commonly called the voice box, is an organ (anatomy), organ in the top of the neck involved in breathing, producing sound and protecting the trachea against food aspiration. The opening of larynx into pharynx known as the laryngeal ...
) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5
* 1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1
* 17q12 microdeletion syndrome – a partial monosomy caused by a deletion of part of the long arm of chromosome 17
In embryos
Analyses of the products of humanmiscarriage
Miscarriage, also known in medical terms as a spontaneous abortion, is an end to pregnancy resulting in the loss and expulsion of an embryo or fetus from the womb before it can fetal viability, survive independently. Miscarriage before 6 weeks ...
s show that the majority of aneuploidies ( trisomies or monosomies) in early developing embryo
An embryo ( ) is the initial stage of development for a multicellular organism. In organisms that reproduce sexually, embryonic development is the part of the life cycle that begins just after fertilization of the female egg cell by the male sp ...
s arise from errors occurring during maternal meiosis
Meiosis () is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, the sperm or egg cells. It involves two rounds of division that ultimately result in four cells, each with only one c ...
and that paternal meiotic errors contribute less than 10%. This bias may be due to the complexity of meiosis in oogenesis and the extremely prolonged arrest during meiosis that is prone to errors. However, in embryos that have developed to the cleavage stage, an equal maternal, paternal contribution to monosomies is observed.
See also
* Anaphase lag *Miscarriage
Miscarriage, also known in medical terms as a spontaneous abortion, is an end to pregnancy resulting in the loss and expulsion of an embryo or fetus from the womb before it can fetal viability, survive independently. Miscarriage before 6 weeks ...
References
External links
{{Chromosomal abnormalities Cytogenetics Chromosomal abnormalities