We report on a 13-yr-old boy with acrodysostosis, a review of 30 cases in the literature, and metacarpophalangeal pattern profile (MCPP) analysis. The prominent manifestations (present in greater than 75% of cases) of this condition include nasal and maxillary hypoplasia, peripheral dysostosis, first ray hyperplasia of the foot, acromesomelic brachymelia, decreased interpedicular distance, advanced skeletal maturation and mental retardation. Results of chromosome studies have been normal. An autosomal dominant inheritance pattern was reported in two families. Maternal and paternal ages were 2 and 3 yr, respectively, above the average age of the general parent population, which suggests that advanced parental age may be a factor in the cause of this condition. A characteristically abnormal MCPP was found in our patient and in 16 additional cases studied from the literature. A mean MCPP was developed for the syndrome. MCPP analysis may be useful as a diagnostic tool in patients suspected to have acrodysostosis.

A brief course of oral dexamethasone (4 days) was significantly more effective than placebo within 14 days for the treatment of depression in a randomized, double-blind study of depressed outpatients.

Multiple endocrine neoplasia type II (MEN-II) syndrome is an autosomal dominant condition characterized by medullary carcinoma of the thyroid, pheochromocytoma, and parathyroid adenoma. A cytogenetic investigation was conducted on 13 MEN-II syndrome patients from four unrelated kindreds and 13 age-matched control subjects for chromosome instability and the chromosome 20 deletion reported in MEN-II syndrome. A significant increase (p < 0.05) was found in the total number of chromatid and chromosome aberrations in MEN-II cells (12.3%) compared with control cells (6.9%) grown at 96 hours in mitomycin C (20 ng/ml, final concentration). The major difference between the two groups was in chromatid, and not chromosome, aberrations. There was no difference between MEN-II and control individuals in fragile site expression, the number of sister chromatid exchanges or cell kinetics.A blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from 13 MEN-II and seven control individuals. Twelve of 13 MEN-II patients and one of seven control subjects were scored as having a 20p12.2 deletion (χ 2 = 12.6; p< 0.001). Additional research is needed to determine if this cytogenetic finding is due to a chromosome deletion, inversion, or polymorphism.

The fragile X syndrome is a well-recognized form of X-linked mental retardation with a chromosomal fragile site at Xq27.3 observed in cells grown in folate-deficient culture medium (Brookwell and Turner 1983;Sutherland 1979;Chudley and Hagerman 1987). To determine if generalized chromosome instability exists in fragile X syndrome patients, 5793 lymphocytes from 55 control subjects (33 males and 22 females, average age 29.1 years with a range of 0.1 to 76 years) and 2731 lymphocytes from 27 fragile X syndrome individuals (21 males and 6 females, average age of 27.3 years with a range of 2 to 67 years) were studied in cultures with folate-deficient medium 199. The fragile X chromosome expression ranged from 1% to 55% with an average of 16%. In cells from the control subjects 85 chromosome breaks were observed with a frequency ranging from 0 to 14 (average 1.6) per 100 meta-phases. In cells from the fragile X syndrome patients 41 breaks were seen (excluding the Xq27 site) and the frequency ranged from 0 to 6 (average 1.5) per 100 metaphases. The site of the breaks was determined in banded chromosomes. The 3p14 and 16q23 sites were the most common autosomal locations for breaks in cells from both control and fragile X syndrome individuals. In conclusion our results with a relatively large sample of control and fragile X syndrome individuals confirmed earlier reports (Vekemans et al. 1983;Branda et al. 1984) that no increased chromosome breakage exists in the fragile X syndrome individuals compared with control subjects.

These collaborations illustrate the highly complementary relationship of public-academic liaison activities and their potential capacity to improve access to services, substantially improve the quality of these services, generate extramural support for services research, and increase the number of well-trained professionals in the public sector.