Identification of iso(18p) marker chromosome by fluorescence in situ hybridization with single-copy DNA probe.
The patient displayed the clinical features consistent with tetrasomy (18p) syndrome, who had an extra small metacentric iso(18p) chromosome in otherwise normal karyotype. Identification of the marker chromosome used the chromosome 18 band-specific fluorescence in situ hybridization strategy.
Nakashima
H
H
Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
Hasegawa
T
T
Sakai
M
M
Inaba
R
R
Imamura
T
T
D000293:Adolescent; D002869:Chromosome Aberrations; D002887:Chromosomes, Human, Pair 18; D015342:DNA Probes; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008831:Microcephaly / Q000235:genetics
D015342:DNA Probes; D005819:Genetic Markers