Experience with prenatal fragile X detection.

We have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed.

Distal duplication 14q: report of three cases and further delineation of the syndrome.

Three cases of distal duplication 14q are presented. The first two cases are cousins in a kindred segregating a balanced translocation t(14;18)(q31;q23). The third case resulted from a maternal translocation t(14;18)(q24;p11).

Atypical Down syndrome and partial trisomy 21.

A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2).

The strength of association between fragile (X) chromosome presence and mental retardation.

In order to obtain a quantitative estimate of the degree of association between presence of fragile X chromosome (fra(X] and mental retardation (MR), existing data from nonretarded males were analyzed. Clearly, fra(X) occurs less frequently among nonretarded compared to MR males. However, incidence estimates for fra(X) based upon existing data hold open the possibility that there may be significant numbers of nonretarded males with fra(X).

Ro 22-5417, a new clavam antibiotic from Streptomyces clavuligerus. II. Fermentation, isolation and structure.

The purification of a new antibiotic, Ro 22-5417, was achieved by a variety of preparative column chromatographic methods. The antibiotic was obtained crystalline with an overall recovery of 3% after a 300-fold purification. The structure was determined from proton and 13C NMR spectra to be 3-(7-oxo-1-aza-4-oxabicyclo[3.

Monosomy 21 syndrome: further delineation including clinical, neuropathological, cytogenetic and biochemical studies.

Only six cases of living newborns with apparently complete monosomy 21 have been reported. All the previous cases with the exception of the present case died between 3 weeks and 20 months. Only one of these cases had a postmortem examination.

The effect of oral contraceptives on sister chromatid exchange, blast transformation, mitotic index and micronuclei formation.

Lymphocytes from 5 individuals were cultured to study the effect of mestranol and norethindrone on sister chromatid exchange (SCE), blast transformation, mitotic index and micronuclei formation. Four combinations of the drugs were compared to water and ethanol controls. Some steroid combinations increased the SCE frequency compared to ethanol controls.

Lymphocyte stimulation in swine dysentery.

In lymphocyte stimulation studies of pigs affected with swine dysentery (SD) all of the pigs gave significant response (P less than 0.05) to soluble antigen from Treponema hyodysenteriae. Swine infected with virulent or attenuated T.

Immunohistochemical localization of alpha 1-antitrypsin in normal mouse liver and pancreas.

Using horseradish peroxidase and fluorescence immunohistochemistry, alpha 1-antitrypsin (alpha 1AT) was demonstrated in normal mouse hepatocytes and pancreatic islet cells. All hepatocytes were positive; 1--3% stained intensely for alpha 1AT. These were located mainly in the periportal area as well as randomly distributed, both singly and in clusters, throughout the liver lobule.

A liveborn case of 49,XXXY, + 18.

The first case of a liveborn male infant trisomic for both the X and the No 18 chromosome is presented. The patient had multiple congenital anomalies many of which were similar in appearance to patients with trisomy 18. The proband died after 2 days.