Monosomy

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Monosomy Classification and external resources
ICD-10	Q93., Q96.
MeSH	D009006

Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair.^[1] Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.

[edit] Human monosomy

Human conditions due to monosomy:

• Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two. Turner syndrome is the only full monosomy that is seen in humans.
• Cri du chat syndrome -- (French for "cry of the cat" after the distinctive noise by affected persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short p (from the word petit, French for small) arm of chromosome 5
• 1p36 Deletion Syndrome -- a partial monosomy caused by a deletion at the end of the short p arm of chromosome 1

[edit] See also

Anaphase lag

[edit] References

v • d • e Pathology: chromosome abnormalities (Q90-Q99, 758) Autosomal trisomies Down syndrome (21), Edwards syndrome (18), Patau syndrome (13), Trisomy 9, Warkany syndrome 2 (8), Cat eye syndrome (22), Trisomy 22, Trisomy 16 Autosomal monosomies/deletions Wolf-Hirschhorn syndrome (4), Cri du chat (5), Williams syndrome (7), Angelman syndrome/Prader-Willi syndrome (15), Miller-Dieker syndrome/Smith-Magenis syndrome (17), 22q11.2 deletion syndrome (22) X/Y linked Monosomy: Turner syndrome (XO) Trisomy: Triple X syndrome (XXX), Klinefelter's syndrome (XXY), XYY Other Karyotypes: XXXX, XXYY, XXXXX, XXXXY Translocations Philadelphia chromosome, Burkitt's lymphoma Other Fragile X syndrome, Gonadal dysgenesis (Mixed gonadal dysgenesis)