Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a famil...

TAKEDA, K., NAKAI, H., HAGIWARA, H., TADA, K., SHOWS, T.S., BYERS, MG. and MYEROWITZ, R. Fine Assignment of R-Hexosaminidase A a-Subunit on 15g23-q24 by High Resolution In Situ Hybridization. Tohoku J. Exp. Med., 1990, 160 (3), 203-211 Tay-Sacks disease results from mutation in the gene encoding /3-hexosaminidase A a-Subunit. Although some reports have suggested the locus on 15q, we tried to de...

Meckel syndrome (MKS) is a lethal, autosomal recessive condition characterised by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia, fibrotic changes of the liver in the portal area with ductal proliferation, and postaxial polydactyly. Recently, a MKS gene has been mapped to chromosome 17q21-q24 in Finnish families, with no evidence of locus heterogeneity in this po...

Co-addition of deep (rms ∼ 30μJy) 20cm data obtained with the Australia Telescope Compact Array at the location of Spitzer Wide field survey (SWIRE) sources has yielded statistics of radio source counterparts to faint 24μm sources in stacked images with rms < 1μJy. We confirm that the infrared-radio correlation extends to f24μm = 100μJy but with a significantly lower coefficient, f20cm = 0.039f...