Subject(s)
Computer Terminals , Emergency Service, Hospital/organization & administration , Hospital Information Systems/organization & administration , Radiology Information Systems/organization & administration , Communication , Humans , Massachusetts , Medical Records Systems, Computerized/organization & administration , Software Design , Technology Assessment, Biomedical , User-Computer Interface , WorkflowABSTRACT
High resolution PCR-SSOP typing methods for HLA-B identification have been established and applied to a Northern Ireland population, using large enough numbers to give dependable allele frequencies. The six systems, which operate independently of each other, are intended for use as secondary typing systems following HLA-B identification with a medium resolution PCR-SSOP technique.
Subject(s)
Alleles , Gene Frequency/immunology , HLA-B Antigens/genetics , Histocompatibility Testing/methods , Oligonucleotide Probes/genetics , Polymerase Chain Reaction/methods , Base Sequence , Cell Line, Transformed , Humans , Northern Ireland , Nucleic Acid Hybridization , Registries , Software , White People/geneticsABSTRACT
We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.
Subject(s)
Chromosome Aberrations , Chromosome Disorders , Chromosomes, Human, Pair 12 , Phenotype , Abnormalities, Multiple/genetics , Adult , Aneuploidy , Genetic Testing , Humans , Male , MosaicismABSTRACT
A child with mental retardation and multiple congenital abnormalities, including brachycephaly, an unusual facies, brachydactyly, clinodactyly and bilateral talipes valgus, was found to have a small interstitial deletion of the short arm of chromosome 17. The clinical features and cytogenetic observations are compared with those in previously reported cases.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 17 , Intellectual Disability/genetics , Humans , Infant , SyndromeABSTRACT
Pure fetal blood, (uncontaminated with maternal blood), was obtained from two male fetuses at risk for X-linked mental retardation with fragile(X) at Xq27-28 by direct vision fetoscopy and fetal blood sampling. Both were shown to have this fragile site on the X chromosome while nine other fetal blood samples from pregnancies at risk for other X-linked diseases, or haemoglobinopathies did not show fragile sites at Xq27-28, and a blood sample from an abortus showed only 1 fragile site in 95 mitoses. Both pregnancies were terminated, cultures established from fetal tissues, and the diagnosis confirmed in each case. The problems of demonstrating the fragile site in tissues other than fetal blood in these pregnancies (such as amniotic fluid cells or fibroblasts from fetal tissues) are discussed.
