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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.

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Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].

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  • Coco R, Penchaszadeh V B: Frequency of chromosomal aberrations in 131 patients with multiple congenital malformations and mental retardation. J. Ped. 89:325 (Abstr.), 1976.
  • Frydman M, Shabtai F, Barak Y, Halbrecht I, Elian E: Triple mosaicism 45,XY,-18/46,XY/47,XY,+18. J. Med. Genet. 16:232-234, 1979. [PMC free article: PMC1012700] [PubMed: 469904]
    Patient died after 67 days of extensive bilateral pneumonia. Unusual features were cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib.
    Index Terms: Ribs ... anomalies,Vertebra ... lumbar, abnormalities
  • Iwarsson E, Lundqvist M, Inzunza J, Ahrlund-Richter L, Sjoblom P, Lundqkvist O, Simberg N, Nordenskjold M, Blennow E.: A high degree of aneuploidy in frozen-thawed human preimplantation embryos. Hum. Genet. 104:376-382, 1999. [PubMed: 10394928]
    68 embryos were studied.
    3 were monosomy 18.
    25% were normal. Most of the abnormals were diploid mosaics.
  • Jackson K E, Tsien F, Marble M.: Phenotypic features in a boy with monosomy 18 mosaicism. AJMG 95:229-232, 2000. [PubMed: 11102928]
    45,XY,-18[14]/46,XY[86] in blood.
    The pregnancy was complicated by polyhydramnios and premature labor. Cleft lip was repaired; there were mild behavioral and academic problems in this 9 year old boy.
  • Khalifa M M, Yamashiro H, Duncan A M V, Hefferon M, Martin A E.: A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality. Clin. Genet. 49:318-320, 1996. [PubMed: 8884084]
    Patient FC was 9 months old.
    mos45,XX,-18(5/100 cells; and 7%)/46,XX-blood.
    The patient had dysmorphic features: large ears with prominent antihelix, strabismus, peculiar-shaped mouth and small nose.
    Survival of the patient is attributed to the low level of monosomy.
Copyright © 2011-2013, Digamber Borgaonkar.
Bookshelf ID: NBK106295


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