Monosomy 14

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 present with severe symptoms such as mental retardation, ocular colobomata, microcephaly, and seizures.[2][3]

References

  1. ^ Ginsburg, David; Gelehrter, Thomas D.; Collins, Francis S. (1998). Principles of medical genetics. Baltimore: Williams & Wilkins. pp. 169. ISBN 0-683-03445-6. 
  2. ^ McConnell V, Derham R, McManus D, Morrison PJ (July 2004). "Mosaic monosomy 14: clinical features and recognizable facies". Clin. Dysmorphol. 13 (3): 155–60. PMID 15194951. 
  3. ^ Cantú ES, Thomas IT, Frias JL (September 1989). "Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation". Clin. Genet. 36 (3): 189–95. PMID 2676269. 

Wikimedia Foundation. 2010.

Игры ⚽ Поможем написать реферат

Look at other dictionaries:

  • Monosomy — Classification and external resources ICD 10 Q93, Q96 MeSH …   Wikipedia

  • 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 — 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

Share the article and excerpts

Direct link
… Do a right-click on the link above
and select “Copy Link”