Familial occurrence of chromosome 7/12 translocation.

A new balanced translocation, t(7;12) (p12;p13), was found in a high genetic risk family in which the mother is a translocation carrier. She had 12 pregnancies, six of which were terminated during the first trimester by spontaneous abortions. Among the six live births, three children inherited the translocation from their mother and were phenotypically normal. The father and three other children had normal karyotypes.

Clinical and cytogenetic studies of patients with polycystic ovary disease.

Chromosomal studies in patients with polycystic ovary disease have produced contradictory findings. Whereas some patients showed various sex-chromosome anomalies, the majority had a normal karyotype. However, banding techniques were not employed in any of those studies. This report presents the result of cytogenetic studies with the use of the trypsin-Giemsa banding technique in 15 patients with polycystic ovary disease. Ten patients had normal karyotypes. In five patients, pseudodiploidy with trisomy 14 was present in 2% to 4% of the cells analyzed. However, the missing chromosome in pseudodiploid cells was not always the same. The phenotype of these patients was normal, except for polycystic ovary disease. The finding of trisomy 14 in 2% to 4% of the cells in five of 15 patients (33%) with polycystic ovary disease is significant, since such an occurrence is extremely rare in the general population. The implication of this cytogenetic finding remains unclear.

False-positive amniotic fluid cytology in a parturient with active genital herpes infection at term.

A patient who developed genital herpes infection diagnosed at 37 weeks' gestation is presented. Amniocentesis performed at 38 weeks' gestation revealed herpetic changes in fetal cells. Subsequent amniotic fluid viral culture was negative. The infant was delivered by elective primary cesarean section at 39 weeks' gestation, demonstrated no evidence of herpetic infection, and was well at a 3-month follow-up examination. Positive cytologic changes seen in epithelial cells obtained by amniocentesis do not necessarily indicate intrauterine infection of the fetus. Cytologic changes alone are inadequate, and viral isolation by culture or by immunofluorescence should be required before prophylactic cesarean section is abandoned in the treatment of the parturient with active genital herpes infection near term.

Large endometrioma occurring in an adolescent.

The occurrence of endometriosis and endometriomas in adolescent women is unusual. A large endometrioma of the ovary, occurring in a 19-year-old woman, with minimal symptomatology, is reported. The occurrence, etiology, and treatment are discussed.

Chromosome 6/15 translocation with multiple congenital anomalies.

A female infant with multiple congenital anomalies was found to have an abnormal karyotype: 45,XX,--6,--15, +t (6;15). Precise identification of the translocation was made by trypsin-Giemsa banding technic. The congenital malformations include hypertelorism, microphthalmia, beak nose, low-set ears, cleft palate, micrognathia, simian crease, hypertrichosis, and low hairline. The unbalanced translocation is apparently responsible for the abnormal phenotype.

Cytogenetic variants in holoprosencephaly. Report of a case and review of the literature.

A new infant with classical features of holoprosencephaly and multiple extracranial malformations was found to have abnormal karyotype: 47, XX, + 13. Although trisomy D has been reported in a few cases, our case is the first, to our knowledge, in which positive identification of trisomy 13 was made by banding technique in cebocephaly.