[Rare case of mosaicism for chromosome 18, karyotype: 46, XX, del(18) (p11)/46, XX, i(18q)].
Rare mosaicism of chromosome No 18 is described. The proposita is 5.5 years old and has two cell clones: 50% of cells are monosomic for 18p and 50% have isochromosome i18q. The ratio of these clones (1:1) is found to be similar at the age of the proposita 2.5 and 5.5 years. The proposita has some phenotypic characters of both 18p- (ptosis, epicanthus, deformed carious teeth, falled back sternum etc.) and trisomy 18q (contraction of external auditory meatus, femur luxatus congenitus etc.) syndromes. A possible mechanism for the origin of such a mosaicism is discussed.
D000782:Aneuploidy; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18 / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy
Redkiĭ sluchaĭ mozaitsizm po khromosome 18, kariotip: 46, XX, del(18) (p11)/46,XX, i(18q).