The discovery of phenylketonuria: the story of a young couple, two retarded children, and a scientist.

In the 1920s, a little girl 3 years of age was brought from China to the United States by her American mother. Although the child was beautiful, her mind was not developing. The grief-stricken mother had consulted doctors in China, but they could neither diagnose the problem nor provide treatment.

Chromosome identification of the rusty-spotted cat (Felis rubiginosa): one more down and four to go.

The chromosomes of the rusty-spotted cat, Felis rubiginosa, of Sri Lanka (Ceylon) were analyzed. Although the 38-chromosome complement of F rubiginosa closely resembles that of several other species, it seems to be unique with only minor variations in the D and F chromosomes. This reduces, from 5 to 4, the number of the 37 recognized world feline species not yet cytogenetically studied.

Pachyonychia Congenita (Jadassohn-Lewandowsky syndrome): a seventeen-member, four-generation pedigree with unusual respiratory and dental involvement.

Pachyonychia Congenita (PC) is an autosomal dominant syndrome of thick nails and other epithelial defects. A hospitalization for severe respiratory distress in a 3-year-old boy with PC and an affected father led to the discovery of 17 affected persons in a kindred spanning four generations. Nine relatives had varying degrees of upper respiratory tract obstruction, and eleven had dental aberrations.

The interrelationships of chromosome banding patterns in canids, mustelids, hyena, and felids.

The G-banding patterns of six canids, four mustelids, one hyena, and 12 felids have been studied, and data from the study of 30 felids are summarized. The canids are karyotypically very similar to one another, but minor differences have tentatively been identified. The mustelids show the greatest karyotypic diversity of all the carnivore families so far studied.