Melvin Gertner

Trisomy 22: a clinical entity.

The constellation of a characteristic facies, mental retardation, growth retardation,microcephaly, micrognathia, preauricular skin tags, appendages and sinuses, low-set and/or malformed ears, congenital heart disease, cleft palate, deformed lower extremities, finger-like malopposed thumbs, cubitus valgus, and abnormal and/or low-set nipples, in association with an extra small acrocentric chromosome, has been described in 3 patients. Each of the mothers had difficulty in conceiving; one was mosaic for trisomy 22. Autoradiographic studies done on 2 of the 3 patients showed the extra small acrocentric chromosome to be early replicating, suggesting that it is a number 22. On the basis of the phenotypic and cytogenetic findings in these and 10 similar patients previously reported, and in conjunction with the autoradiographic results, it is proposed that trisomy 22 is a distinct clinical entity.

Cellular metachromasia in Pompe's disease and Pelizaeus-Merzbacher disease

Two additional diseases, Pompes disease and Pelizaeus‐Merzbacher disease, have been shown to demonstrate cellular metachromasia. In addition, our studies of metachromasia in fibroblasts from skin biopsies taken from patients with a variety of other disorders are described and our impression of the limited usefulness of metachromasia is discussed.

Incubating syphilis in an adolescent female rape victim.

The risk of infection after rape is believed to be low. The use of presumptive treatment is, therefore, controversial. Some experts recommend treatment of all patients, and others suggest treatment if the doctor suspects infection, if the patient requests it, if follow-up examination of the victim cannot be ensured, or if the assailant has a known infection. No regimen will cover all possible pathogens. The Centers for Disease Controls empiric regimen for victims of sexual assault is effective against gonorrhea, chlamydia, and, most likely, syphilis. We present a case of incubating syphilis following rape, that did not respond to ceftriaxone.