G. Del Porto

On a case of rare chromosomal aberration.

The Authors report a case of translocation 21/21 in a woman who, after two miscarriages, gave birth to a mongoloid daughter — dead a few days after birth. The chromosomal aberration was present in 100% of the plates examined. Occasional chromosomal alterations, found in the patients karyotype, might be held responsible of small phenotypic alterations. No alteration was found in the husbands karyotype.

Experiences of Eugenic Counseling in Neurology at the Mendel Institute

The cases of neurologic interest of the Mendel Institutes Eugenic Counseling Service and the various counseling possibilities, at a prezygotic, zygotic, and clinical level, are reviewed. The importance of the data collected and their possibilities of application to the general population are stressed.

Analysis of Microsymptomatology in CNS Malformations

A total of 105 sibships with one or more members affected by CNS malformations have been drawn from the Mendel Institutes Eugenic Counseling file and examined. The mode of inheritance and the variability of segregation have been verified according to the presence or absence of spina bifida occulta in one or both parents. The results obtained lead the authors to suggest that the expression of major genes responsible for the pathology be conditioned by minor genes responsible for localization.

Pseudo-Pseudo Male Hermaphroditism with Auto-Gonosomic Mosaic

A case of apparent pseudo-hermaphroditism is described, which seems to represent a new kind of genital pathology. The phenotypic (genital ambiguity) and genotypic (mosaicism of both autosomes and gonosomes) alterations are interpreted as the result of a series of clonal errors of mitosis in the ontogenetic development of a Xy zygote, due to mutant genes for the control of mitosis.