A mosaic case of isodicentric chromosome 18.
A case of mosaicism of isodicentric chromosome 18 is reported. Dicentric chromosome 18 occurs rarely and only five cases of isodicentric chromosome 18 have been documented. A high resolution banding method revealed that the karyotype of the patient was mos 46,XX/46,XX idic(18)(pter-->q21.3::q21.3-->pter), and the ratio of normal and abnormal clones was 1:1. The clinical manifestations, resembling those of trisomy 18 syndrome, were affected by both partial trisomy 18pter-->q21.3 and partial monosomy 18q21.3-->qter.
Fujiwara
M
M
Department of Pediatrics, Hakodate Municipal Hospital, Hokkaido, Japan.
Kamasaki
H
H
Morita
Y
Y
Kamada
M
M
D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D011379:Prognosis