A familial MCA/MR syndrome due to translocation t(10;16) (q26;p13.1): report of six cases.

A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair.

The Montana Fetal Genetic Pathology Program and a review of prenatal death in humans.

Western medicine is being sensitized to the enormous extent of prenatal death in humans at a time when such deaths, occurring after the first missed period, involve to an ever increasing degree wanted pregnancies conceived by women with rising mean maternal age, decreasing mean fertility, and ever greater desire and intention to assure a good pregnancy outcome. Available data suggest that about two-thirds of human ova, embryos, and fetuses fail to reach birth or the end of the first year of life, with infant mortality of 1.06%, stillbirth rate of 8/1,000, abortion rate of about 15%, and death rate around the time of implantation estimated at 34%.

NOR activity and centromere suppression related in a de novo fusion tdic(9;13)(p22;p13) chromosome in a child with del(9p) syndrome.

A female infant with del(9p) syndrome was found to have the karyotype 45,XX,tdic(9;13)(p22;p13) de novo. In the translocation chromosome, various combinations of AgNOR activity and inactivity were found with suppression of either the 9 or neither centromere. These phenomena of discontinuous centromeric suppression and variation in NOR activity in the one chromosome were scored on AgNOR, GTG, and a combination of AgNOR- and GTG-banded preparations.