Within the last year
Within the past 3 years
1 - 10 of 12 articles
Severe mental retardation, growth failure, microcephaly, micrognathia, cleft palate, hooked nose, low-set thin flabby ears, pronounced elongated philtrum, and generalized decreased subcutaneous tissue characterized a 5 year 9 month old female with karyotype 47,XX, + 15, del(15)(q15).
An inmate of a hospital for the mentally retarded was found during a cytogenetic screening programme to have karyotype 46,XY,inv(19)(p13q13)mat. Clinical, cytogenetic and family findings are presented and it is concluded that the chromosome abnormality was probably not the cause of the patient's...
A method is described which enables prenatal diagnosis of Lesch Nyhan Syndrome (HGPRT deficiency) to be made within 7–10 days. The procedure is based on the direct cultivation of amniotic cells on microtest II plates; the HGPRT reaction is performed in individual wells containing between 500 to...
A method is described by which banded chromosomes are scanned from photographic negatives using a computer-controlled Zeiss scanning-microscope-photometer. The method is convenient for research purposes and the results are accurate, reproducible and suitable for further intensive data handling.
Additional study was carried out of six generations belonging to the K. kindred, which were previously investigated by Oransky (1927). Eighteen members of this kindred were studied. In the early stages of the disease a sharp dissimilarity was observed in the pheno-types in the K. kindred,...
Three male infants with generalized elastolysis and leprechaunoid features from two related and consanguineous parents of Italian origin died in the first year of life following severe cardio-pulmonary complications. While these children showed a decrease in elastic fibers, no degeneration was...
Read and print from thousands of top scholarly journals.
Sign up with Facebook
Sign up with Google
Already have an account? Log in
Save this article to read later. You can see your Read Later on your DeepDyve homepage.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Sign Up Log In
To subscribe to email alerts, please log in first, or sign up for a DeepDyve account if you don’t already have one.
To get new article updates from a journal on your personalized homepage, please log in first, or sign up for a DeepDyve account if you don’t already have one.