Monosomy 14 Explained

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]}

Notes and References

1. Book: Ginsburg, David . Gelehrter, Thomas D. . Collins, Francis S. . Principles of medical genetics . Williams & Wilkins . Baltimore . 1998 . 169 . 0-683-03445-6 . registration .
2. McConnell V, Derham R, McManus D, Morrison PJ . Mosaic monosomy 14: clinical features and recognizable facies . Clin. Dysmorphol. . 13 . 3 . 155–60 . July 2004 . 15194951 . 10.1097/01.mcd.0000126137.29572.59. 22523296 .
3. Cantú ES, Thomas IT, Frias JL . Unusual cytogenetic mosaicism involving chromosome 14 abnormalities in a child with an MR/MCA syndrome and abnormal pigmentation . Clin. Genet. . 36 . 3 . 189–95 . September 1989 . 2676269 . 10.1111/j.1399-0004.1989.tb03187.x. 40718643 .