A female with monosomy 18 mosaicism: a previously undescribed chromosome abnormality.
We report on a patient with monosomy 18 mosaicism, a previously undescribed chromosome abnormality. The phenotype is reminiscent of chromosome 18 ring mosaicism. The reason that the patient survived may be attributed to low level mosaicism for the monosomy.
Khalifa
M M
MM
Department of Paediatrics, Queen's University, Kingston, ON, Canada.
Yamashiro
H
H
Duncan
A M
AM
Hefferon
M
M
Martin
A E
AE
D002887:Chromosomes, Human, Pair 18; D019066:Facies; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D009030:Mosaicism; D009759:Nystagmus, Pathologic / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics