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Biomedical subjects

A C Berry

Publications and source records attributed to A C Berry.

At least 55 records · Page 3Linked to original sources
PubMed1985

Chromosome 15 in Prader-Willi syndrome.

Nineteen children with the clinical features of Prader-Willi syndrome were karyotyped, using both routine Giemsa banding and high-resolution techniques. Chromosome abnormalities involving chromosome 15 were found in 10, entirely normal chromosomes in five and for the remaining four the findings were either equivocal or difficult to interpret. There was no clinical distinction between cases with and without the chromosome anomaly. Examination of three parents and a group of controls showed that the proximal end of the long arm of chromosome 15 may have a considerable degree of normal variation, which can make interpretation difficult.

Child↗
PubMed1979

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.

Amniocentesis↗
PubMed1979

Two children with partial trisomy for 7p.

A second family in which a balanced translocation between 7p and 22q is segregating is described. The clinical features of 2 children with a resulting partial trisomy for 7p are described and compared with the previously described case.

Abnormalities, Multiple↗
PubMed1978

Mosaicism and the trisomy 8 syndrome.

Three new cases of trisomy 8 mosaicism are presented; two have features corresponding with those usually found in this syndrome, whereas one is highly atypical. In view of the almost universal mosaicism of these patients, the literature is reviewed with an emphasis on the patterns of mosaicism found. There is little correlation between degree of mosaicism and extent of clinical abnormality. The degree of mosaicism differs in different tissues, fibroblasts being more informative of aneuploidy than lymphocytes, and there is some evidence that the degree of mosaicism varies with time. The reasons for these findings are discussed, with particular reference to the raised paternal age found in a proportion of the reported cases.

Abnormalities, Multiple↗
PubMed1977

Prenatal recognition of 4p- syndrome.

A fetus with the rare 4p- syndrome was detected by chromosome analysis of amniotic cell culture, and the pregnancy terminated. The fetus showed a number of the physical stigmata of the syndrome.

Abnormalities, Multiple↗
PubMed1976

The anthropological value of minor variants of the dental crown.

The incidences of 31 minor variants of the dental crown were scored from dental casts of samples taken from six European populations. Although several variants showed significant sex bias in one or other sample, only one (pits instead of furrow on premolar2) consistently favoured one sex. Associations between the variants were sought. Although few consistent associations were demonstrated, there was a possible tendency for extra cusps to occur together throughout the dentition. Distance statistics calculated between the samples were compatible with the expected genetical relationships of the samples, but only modern samples could be used since variants were destroyed by attrition in archeological samples. Before such distances can be considered reliable, it is necessary to know: (i)the extent to which environmental factors such as diet influence variant expression. (ii)whether or not variant bearing teeth are selectively destroyed by caries, which in civilised populations render a high proportion of most dentitions unscoreable.

Anthropology, Physical↗