Screening for genetic risk of breast cancer.

Approximately 10 to 15 percent of all breast cancers are thought to be familial and about one third of these cases are due to an inherited mutation in a BRCA1 or BRCA2 breast cancer-susceptibility gene. The lifetime incidence of breast cancer in mutation carriers is above 50 percent, and carriers of BRCA1 mutation also have a substantially increased risk of ovarian cancer. BRCA1 and 2 mutations are associated with early-onset breast cancer, and some experts call for aggressive screening of affected persons.

Trisomy 22 mosaicism syndrome and Ullrich-Turner stigmata.

Mosaic trisomy 22, ascertained in three unrelated patients, was found to be associated with body asymmetry and signs of the Ullrich-Turner syndrome including short stature, ptosis, webbed neck, nevi, cubitus valgus, dysplastic nails, malformed great vessels, and abnormal ovaries. These anomalies in trisomy 22 mosaicism have not been emphasized heretofore. In each of our patients, trisomy 22 mosaicism was found only in fibroblasts.

Development and aging of the eye in mice with inherited optic nerve aplasia: histopathological studies.

We have examined the morphological development of optic nerve aplasia in a subpopulation (10-20%) of anophthalmic mice (Strain ZRDCT -AN) that develop microphthalmia. During embryonic stages the optic fissure in microphthalmic mutants did not involute into the optic stalk. Even in the absence of a proper fissure, early differentiation of the various retinal elements was not disturbed.