Monosomy

Monosomy
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.

Human monosomy

Human conditions due to monosomy:

  • Turner syndrome - Women with Turner syndrome typically have one X chromosome instead of the usual two sex 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 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

See also

References

  1. ^ "CRC - Glossary M". Archived from the original on 2007-08-08. http://web.archive.org/web/20070808184549/http://cll.ucsd.edu/glossarym.htm. Retrieved 2007-12-23. 
v · d · ePathology: chromosome abnormalities (Q90–Q99 · 758)
Autosomal
Monosomies/deletions
X/Y linked
Monosomy
Klinefelter's syndrome (47,XXY) · 48,XXYY · 48,XXXY · 49,XXXYY · 49,XXXXY
47,XYY · 48,XYYY · 49,XYYYY
46,XX/XY
Translocations
Lymphoid
Myeloid
Other
Ewing's sarcoma t(11 FLI1; 22 EWS) · Synovial sarcoma t(x SYT;18 SSX) · Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB) · Myxoid liposarcoma t(12 DDIT3; 16 FUS) · Desmoplastic small round cell tumor t(11 WT1; 22 EWS) · Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other

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Look at other dictionaries:

  • Monosomy 9p — Classification and external resources OMIM 158170 Monosomy 9p (also known as Alfi s Syndrome or simply 9P ) is a rare chromosomal disorder in which there is deletion (monosomy) of a portion of chromosome 9. Symptoms include microgenitalia, mental …   Wikipedia

  • Monosomy 14 — Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable.[1] Only mosaic cases exist and these usually… …   Wikipedia

  • monosomy — monosomy. См. гаплосомия. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Monosomy — Missing one chromosome from a pair. For example, if a female has one X chromosome (X monosomy) rather than two, Turner syndrome is the result. * * * Absence of one chromosome of a pair of homologous chromosomes. SEE ALSO: chromosomal deletion.… …   Medical dictionary

  • Monosomy 18p — is the deletion of all or part of the short arm of chromosome 18. Symptoms include mental retardation and several dysmorphic features. It was first described by Jean de Grouchy in 1963.References* …   Wikipedia

  • monosomy — noun see monosomic …   New Collegiate Dictionary

  • monosomy — Situation in a normally diploid cell or organism in which one or more of the homologous chromosome pairs is represented by only one chromosome of the pair. For example, sex determination in grasshoppers depends on the fact that females are XX and …   Dictionary of molecular biology

  • monosomy — See monosomic. * * * …   Universalium

  • monosomy — noun A genetic disorder with the presence of only one chromosome (instead of the typical two in humans) from a pair. See Also: aneuploidy …   Wiktionary

  • monosomy — n. having only one copy of a particular chromosome instead of the normal two copies …   English contemporary dictionary

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