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Monosomy 14

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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 intellectual disability, 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. doi:10.1097/01.mcd.0000126137.29572.59. 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. doi:10.1111/j.1399-0004.1989.tb03187.x. PMID 2676269.
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