[Prenatal diagnosis of the cri-du-chat syndrome in the case of balanced 5p--; 18p+ translocation in the mother]. / Prenatal'naia diagnostika sindroma "koshachii krik" pri sbalansirovannoi translokatsii 5p--; 18p+ u materi.

The case studied is taken to emphasize the high risk of anomalous progeny being delivered from couples, who are the balanced translocation carriers. The "cri du chat" syndrome was diagnosed in a woman carrier of the balanced reciprocal translocation t(5, 18) (5p13; 18p11) during two successive pregnancies: the diagnosis was postnatal in the first pregnancy, and prenatal in the second. The prenatal diagnosis of the 5p--syndrome was made in amniotic fluid cell culture and verified in fetal skin culture obtained through fetal biopsy. A wider network of prenatal diagnosis services, primarily for couples carrying balanced chromosome rearrangements, could greatly contribute to the task of preventing severe hereditary diseases.

[Partial trisomy 13 for the distal long arm and its prenatal diagnosis]. / Chastichnaia trisomiia po distal'nomu segmentu dlinnykh plech khromosomy 13 i ee prenatal'naia diagnostika.

The results of prenatal diagnosis of fetal karyotype in a woman carrier of reciprocal t(13; 21) (q22; q22) translocation during her second pregnancy are presented. The first pregnancy ended in a term delivery of male twins with multiple malformations typical of the Patau syndrome. No cytogenetic investigation was carried out in this case. In the second pregnancy, unbalanced fetal 46,XX,21q+ karyotype was determined in amniotic cell cultures. The pregnancy was terminated after 19 weeks using intraamniotic PgF2 alpha. Phenotypical and pathoanatomical description of the aborted embryo presented corresponds to the clinical picture of the Patau syndrome. The 46,XX,21q+ karyotype was confirmed in fetal skin fibroblast cultures (skin biopsy specimens obtained during induced abortion), namely, partial trisomy for the distal part of the long arm (13q22) of chromosome 13 translocated to chromosome 21, as a result of inherited unbalanced variant of maternal translocation, was demonstrated. Comparative data on phenotype/karyotype correlation of individuals with partial trisomy 13 for distal part of the long aem of varying length are discussed.

[Activity of glycosidases in amniotic fluid cell cultures]. / Aktivnost' glikozidaz v kul'ture kletok amnioticheskoi zhidkosti.

Deficiency of glycosidases is a fundamental feature of the hereditary diseases of glycoconjugate accumulation. The data obtained on activity of glycosidases in cell culture of normal amnionic fluid might be used as standards in prenatal diagnostics of hereditary glycolipidoses and glycoproteinoses. Use of cell culture of amnionic fluid for prenatal diagnosis of Tay-Sachs disease is described.

[Activity and appearance of isoenzyme spectrums of some lysosomal hydrolases in biopsy material of human chorion]. / Opredelenie aktivnosti i vyiavlenie izofermentnykh spektrov nekotorykh lizosomnykh gidrolaz v bioptate khoriona cheloveka.

Activities and isozyme spectra of alpha-L-fucosidase and beta-D-hexosaminidase were similar both in biopsy material from fetal zone of placenta (chorion) and in chorion tissue obtained after abortion. Evaluation of the isozyme spectrum of these glycosidases in biopsy reeterial of chorion might be carried out for prenatal detection of fucosidosis (deficiency of alpha-L-fucosidase), Tay-Sachs disease (deficiency of hexosaminidase A) and of Sandhoff disease (deficiency of hexosaminidases A and B).

[Interpretation of the karyotype characteristics of patients with developmental defects of the urogenital system]. / K voprosu o traktovke osobennostei kariotipa bol'nykh s porokami razvitiia mochepolovykh organov.

35 patients with unclassified urogenital malformations were subjected to clinical and cytogenetic examination. Chromosome aberrations of the mosaicism type were found in 3 women. They were as follows: 45,X/46,XX(2); 45, X/46, XX/47, XXX(1). Moreover, two patients had identical pericentric inversions of chromosome 9: 46, XX, inv. (9) (p13; q13) and 3 patients had microvariants of acrocentric chromosomes. Despite the presence of chromosome anomalies and morphological variants of chromosomes in the examined patients, the comparison of the clinical and cytogenetic data suggests the multifactorial nature of urogenital malformation.

[Chromosomal polymorphism in patients with ovarian hypofunction of central origin]. / Polimorfizm khromosom u bol'nykh s gipofunktsiei iaichnikov tsentral'nogo geneza.

Comparative data are reported on chromosome polymorphism in adolescent patients with ovarian hypofunction of central origin and healthy women. Chromosome variants with small and very small heterochromatin blocks were found to prevail in the adolescent patients. The incidence of pericentric inversions in chromosomes 1 and 9 was found to be significantly increased in the girls with ovarian hypofunction.

[Morphological changes in triploidy in human ontogeny]. / Morfologicheskie izmeneniia pri triploidii v ontogeneze cheloveka

Cytological and morphological data of 187 spontaneous abortuses, 25 fetuses and infants with triploidy described in literature and 6 proper triploid abortuses were analyzed. It was established that in spite of polymorphism of phenotypical manifestations of triploidy in ontogenesis there are a number of permanent, often combining morphological changes (asymmetry of the body, syndactylism of the III--IV fingers and toes, anomalies in the nervous and genito-urinary system). These features in addition Institute of Medical Genetics, USSR Acad. Med. Sci., and Institute of Obstetrics and Gynecology, Ministry of Health, USSR. To dysplasias present in other chromosomal disorders, allow establishing the syndrom of triploidy in man and to diagnose the disease with great probability. Hydropic and cystose degeneration of the chorion villi met in 85% of cases of triploidy has but external resemblance with true vesicular mole which has normal karyotype. Cytogenetical and morphofunctional differences between them were noted.