["Teratologic series" and their genetics]. / "Teratologicheskie riady" i ikh genetika.

Isolated cyclopia is one of the members of the prosencephalic teratologic series. In some families with cyclopian monster other types of prosencephalic malformations are found in sibs or more distant relatives. All these malformations occur more frequently in females. Different forms of prosencephalies are observed in the same type of chromosome disbalance. These data suggest that morphogenesis and etiology of the prosencephalic malformations are common. Therefore a whole teratologic series but not a single member-malformation must be an object of genetic analysis. The same data are found for another teratologic series: bilateral renal agenesis--unilateral one--aplastic variant of the cystic dysplasia of kidneys. Polygenic inheritance with the threshold phenomenon is the most probable type of genetic determination of such malformations. The more frequent occurrence of polygenic malformations in families with the studied malformation whose inheritance is not yet established may be an indirect indication for the polygenic determination of the latter.

The Wolf-Hirschhorn syndrome. I. Genetics.

Four new cases of the Wolf-Hirschhorn syndrome are presented, two of which were due to t(4;22)mat. Review of the literature (more than 100 cases of the Wolf-Hirschhorn syndrome) showed that 13 % of all the reported cases were not mutations but segregations of parental chromosomal aberrations, primarily translocations. Similar data were obtained previously for other deletions (5p--, 18p--, 18q--). Analysis of data on some "new" deletion syndromes (4q--, 8p--, 9p--, 10p--, 11p--, 11q--) revealed that 14.5 % were inherited cases. Thus, all human autosomal deletions have virtually the same genetic pattern.