Biomedical subjects

J Beatty-DeSana

Publications and source records attributed to J Beatty-DeSana.

2 recordsLinked to original sources

PubMed1985

Fragile X syndrome: a public health concern.

This study was designed to test for the fragile X syndrome [fra(X)] in institutionalized male patients with nonspecific mental retardation, referral patients, and relatives of fra(X) patients. Thirty-one of 91 (34.0 per cent) subjects tested were positive for the fra(X) chromosome; relatives had the largest percentage of positives. The data reflect the value of this test for detecting families having potential carriers who can benefit from genetic counseling.

Female↗

PubMed1981

Communication functioning in trisomy 9p.

The communication patterns of four subjects diagnosed as moderately mentally retarded because of chromosomal abberation Trisomy 9p were investigated. The three children and one adult exhibited expressive language deficits in relation to comprehension and general level of functioning. Generally they used approximations of single words and tended to rely on gestures for expression. Unusual acoustic characteristics of speech were also noted.

Adult↗