Monozygotic twins of discordant sex both with 45,X/46,X,idic(Y) mosaicism.

A female twin with short stature, unusual facial appearance, widely spaced nipples, and coarctation of the aorta was found to have a peripheral blood lymphocyte karyotype of 45,X(43%)/46,X,idic(Y)(p11). Her twin brother, also short with similar facial appearance, had the same mosaicism (40% 45,X). Cultured skin fibroblast studies showed discrepant karyotypes of 45,X (100%) in the girl and 45,X (78%)/46,X,idic(Y)(p11) in the boy.

Dystrophin protein and RFLP analysis for fetal diagnosis and carrier confirmation of Duchenne muscular dystrophy.

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated.

New autosomal dominant branchio-oculo-facial syndrome.

We observed an autosomal dominant disorder of abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears in several persons in 3 families. In each of the 3 families, an affected parent had at least one affected child. Father-to-son transmission in one of these families ruled out X-linked inheritance.

The correlation between colposcopic grading, directed punch biopsy, and conization.

In a study group of 102 patients in whom colposcopy examinations were done, a series of 67 selected biopsies and 47 cold-knife conizations were performed. All patients had suspicious or positive Papanicolaou smears. There was a 96 to 98 per cent correlation between the colposcopic findings, biopsies, and cone specimens.