Monosomy is a form of aneuploidy with the presence of only one chromosome from a pair.
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' malformed larynx) 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 human
show that the majority of
aneuploidy (
trisomy or monosomies) in early developing
arise from errors occurring during maternal
meiosis 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.
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See also
External links
