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Biomedical subjects

A Colley

Publications and source records attributed to A Colley.

7 recordsLinked to original sources
PubMed1992

Population screening for fragile X.

A screening programme to detect fragile X syndrome has been operating in New South Wales, Australia, since 1984. The aim of this programme is to find previously unidentified individuals with the syndrome so that their extended families can be properly informed of the risks before making decisions about childbearing. 14,225 individuals attending adult and child facilities for the intellectually handicapped have been screened, of whom 8172 have been offered testing for the fragile X syndrome with a 79% uptake of the service. 253 probands were found, and in the extended families 818 females at 25-100% risk of being carriers were interviewed and counselled. Continuing contact was maintained and prenatal diagnosis was offered. The effect of the programme was assessed in a subgroup of 90 individuals, most of whom were appreciative of the service and felt that they had been adequately informed. The influence of knowing the diagnosis and its genetic implications were also assessed, the main consequences being a 26% reduction in births and a 61% uptake of prenatal diagnosis. Improved techniques for diagnosis of fragile X have benefited the families identified and counselled, suggesting that systematic screening for fragile X should be an essential component of community genetic services.

Adolescent↗
PubMed1992

Unbalanced 13;18 translocation and Williams syndrome.

A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of Williams syndrome, subaortic stenosis, failure to thrive, and developmental delay. This case provides two candidate locations for the underlying molecular pathology of this sporadic syndrome. Williams syndrome is associated with intellectual and growth retardation, infantile feeding problems which may be associated with hypercalcaemia, cardiovascular abnormalities, a friendly, loquacious personality, and a typical facies. The cause is not known and only a few chromosome abnormalities have been reported in patients with the Williams syndrome phenotype. Many papers fail to mention chromosome studies. We report a girl with an unbalanced 13;18 translocation and the Williams syndrome phenotype.

Aortic Valve Stenosis↗
PubMed1991

De novo ring chromosome 3: a new case with a mild phenotype.

We report an 18 year old female with a de novo ring chromosome 3 found after investigation for short stature. Her karyotype was interpreted as 46,XX, r(3)(p26.2q29). Her phenotype is milder than previously reported cases and illustrates the mild end of the spectrum of the ring chromosome 3 phenotype.

Adolescent↗
PubMed1991

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

Chromosome Mapping↗
PubMed1986

Reproduction of complex movements: the effects of the presence of vision during encoding or at recall.

This study investigated the role of vision in the encoding and reproduction of movement. Kinaesthetic reproductions of a kinaesthetically presented two-dimensional movement were compared with reproductions where vision was present either during the standard or at reproduction. The main finding was that the presence of vision during the standard resulted in poorer accuracy and greater underestimation of movement size than when it was absent throughout or present during reproduction. The presence of vision during the standard, however, resulted in less distortion of the linear components of movement shape although no such effect was found for the angular components. The initial direction of movement was reproduced more accurately where visual experience of the movement was given, either during the standard or during reproduction.

Adult↗