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The article discusses case reports of four patients with mental deficiency due to chromosomal abnormalities. The first patient was first studied at the age of two years in 1967 and again in 1968. A ring-C chromosome was found in all modal blood cells and in some skin cells. The second patient was first studied at the age of twelve years in 1968. She was one of dizygotic twins, had been born with a placenta showing marked chorangiomatosis and subsequently was found to have profound mental deficiency.

Presents the results of several clinical and laboratory studies in a 20 year old male with the Smith-Lemli-Opitz syndrome. Case history of the patient; Factor which may account for the rarity of the syndrome among residents of schools for the mentally retarded; Clinical condition of the disease.

Ring formation in a chromosome of the C-group has been described for an X-chromosome in females with gonadal dysgenesis and its associated anomalies (Lindsten, 1963). Next in frequency are reports of patients with ring formation of a chromosome in the D or E groups. It is of interest that, to our knowledge, no ring formation has been reported in spontaneous abortions (Inhom, 1967). Three case reports have appeared describing the occurrence of a C-group ring chromosome in males (Turner, Jennings, den Dulk and Stapleton, 1962; Atkins, Pant, Hazard and Ouellette, 1966). A further case is known to us through a personal communication of Dr. H. Punnett. In this paper we report clinical, cytogenetic and other laboratory findings in a young boy with a C-group ring chromosome, and similar studies in his parents and sibs. [ABSTRACT FROM AUTHOR]

This article focuses on a case study that presents a description of clinical and laboratory findings in a subject with Down's syndrome and cystinuria. The patient had trisomy-21. The chromosomes of the parents were found to be normal and there was no evidence of mosaicism. Routine studies of serum chemical constituents and of urine of the patient, his parents and brother were also found to be normal. Cystine crystals could not be found in any of the several urine samples obtained from these subjects. Higher values of lysine, arginine and ornithine were present in the patient, as compared to those of his mother and brother.

Presents a case study of a child who developed mental deficiency, dwarfism and decreased segmentation of the neutrophilic leucocytes. Medical history of the patient; Findings of the laboratory and physical examinations conducted on the patient; Clinical presentation of the patient.

Presents a case study of Prader-Willi syndrome seen in three boys, who had shown a disorder of the nervous system manifested by extreme muscular hypotonia and swallowing difficulties. Clinical histories of the patients; Results of the physical and laboratory examinations conducted on the patients; Speculations concerning the syndrome.

The article focuses on the study on the syndrome of athetoid cerebral palsy, mental deficiency, self-mutilation and hyperuricemia. The clinical features of the patients so far reported and the present one in the study are remarkably uniform, all presented as a problem in differential diagnosis of severe central nervous system disease dating from birth, not attributable to such causes as prematurity, birth-asphyxia, birth-injury or congenital malformation of the nervous system. An eleven-year-old boy with athetoid cerebral palsy, which had its onset in the first few months of life, showed in addition a self-mutilative behavior and a persistent hyperuricemia without signs of clinical gout.

The article presents a discussion related to unusual dermatoglyphic patterns associated with chromosomal abnormalities. Abnormal patterns of the dermal ridges in Down's syndrome have been well established. Recently unusual dermatoglyphic patterns, different from those in Down's syndrome, have been described as part of the phenotype accompanying other trisomic syndromes. In this article, the authors report the clinical, cytogenetic and dermatoglyphic findings in two patients with undifferentiated mental retardation.

This article describes the simultaneous occurrence of phenylketonuria and Klinefelter's syndrome in a young boy. A wide variety of other conditions, some hereditary, such as diabetes mellitus, has been reported with this disease. With the exception of eczema, none of these diseases appears to have had any definite relationship to phenylketonuria since only sporadic cases of one or the other associated disease have come to light; this may also be true of the association reported here. A repeat phenylalanine loading test using 150 mg./kg. showed that the mother probably also has the heterozygous state for phenylketonuria.