Nakashima H, Hasegawa T, Sakai M, Inaba R, Imamura T
Department of Human Genetics, National Institute of Genetics, Mishima, Japan.
Jpn J Hum Genet. 1995 Jun;40(2):185-8. doi: 10.1007/BF01883575.
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.