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Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

At least 325 records · Page 18Linked to original sources
PubMed1982

Pathomorphological findings of a prenatally diagnosed thanatophoric dwarf.

A case of prenatally diagnosed thanatophoric dysplasia is presented. Other syndromes accompanied by chondrodysplastic tetramicromelia were excluded and diagnosis was based on the narrow thorax, secondary pulmonary hypoplasia and macrocephaly detected by ultrasound and on radiological findings of disturbances of bone formation. At the mother's request labour was induced and radiological, anatomic and histological examination of the newborn confirmed the prenatal diagnosis. By electron microscopy, large conspicuous, homogeneous intracytoplasmic, usually single vacuoles were found in virtually every chondrocyte. Attention is focused on the significant hydramnion which led to the suspicion of fetal malformation. The importance of routine ultrasound screening in pregnancy is emphasised, since such malformations can be detected as early as the midtrimester pregnancy. The use of such methods ensures better maternal care.

Adult↗
PubMed1980

Syndrome of lymphoedema and distichiasis.

A family of ten members in three generations who were affected by lymphoedema with or without distichiasis (extra rows of eyelashes) was observed. This combination of symptoms can be presumed to represent a rare but well-defined hereditary syndrome transmitted by an autosomal dominant gene. Some years ago the published pedigrees of congenital hereditary lymphoedema were reviewed and analysed genetically by Esterly (1965). Recently papers have been published on the association of lymphostasis with congenital distichiasis (Falls and Kertesz, 1964; Robinow et al., 1970; Jester, 1977). We report here a family with ten members in three generations affected by lymphoedema with or without distichiasis.

Adolescent↗
PubMed1980

A collaborative study of the aetiology of Turner syndrome.

Data on Turner Syndrome from four sources were analysed for possible associations with several aetiological factors. Two classes of liveborn propositae were included, those with a non-mosaic 45, X karyotype (XO) and those with an isochromosome of the long arm of the X (iso-X). The numbers were 288 and 84 respectively and constitute the largest series of such cases to be analysed to date. For the XO's, an analysis using the liveborn full sibs of propositae as controls (method of Carothers et al. 1978) confirmed earlier studies in finding no positive association with parental age or birth order, and even suggested a small negative association. There were no significant differences between the mean parental ages of those cases shown by Xg grouping to have received a maternal X chromosome and those of the remainder. Among the iso-X's there was an exceptionally high proportion (17.5%) of parents with an age difference (paternal-maternal) of 10 or more years, raising the possibility of a paternal age effect. This agrees with earlier studies but conflicts with the finding of a negligible tendency for affected individuals to be born later within their sibships. The apparent discrepancy may be due to the relative insensitivity of the latter method to small parental age effects in samples of this size. For the XO's there were no detectable seasonal variations in the month of birth, but for the iso-X's there was a significant excess of births in the first 6 months of the year. Reviewing the conflicting evidence from the literature on seasonal variations in chromosomal aberrations, we urge caution in interpreting these results. In agreement with earlier studies, the incidence of twins among both XO's and iso-X's was higher than the population average, but the numbers were too small for statistical significance. There was no evidence for any alteration in the sex ratio among the liveborn sibs of either class.

Adolescent↗
PubMed1980

Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies.

Six children in an inbred isolate (a gypsy colony) were found to have a syndrome of reduplication of the big toes, supernumerary fingers on the hands, cleft lip/palate or lingual nodule, and somatic and psychomotor retardation. Other features sometimes present were absence of olfactory bulbs and tracts, cryptorchidism, inguinal hernia, and congenital heart disease. The disorder has overlapping features with several previously delineated syndromes, but is most similar to the anomalies of trisomy 13 Mand ohr's syndrome. Our patients had a normal karyotype. The mode of inheritance of this lethal genetic syndrome is probably autosomal recessive.

Cleft Lip↗
PubMed1979

Uncultured cells in amniotic fluid from normal and abnormal foetuses.

Direct smears of uncultured amniotic fluid cells were analysed in 41 pregnancies between 17 and 22 weeks of gestation. These included 27 normal pregnancies where a healthy child was born at term, six anencephalic and five spina bifida pregnancies, and three other abnormal pregnancies. In normal amniotic fluid, epithelioid cells predominated but small numbers of histiocyte-like cells, typical macrophages and elongated cells were also present. The proportion of macrophages and elongated cells was significantly increased in all anencephalic cases. Two of the spina bifida cases also showed abnormal cellular proportions. Haemosiderin and lipid material was demonstrated in some of the cellular proportions. Haemosiderin and lipid material was demonstrated in some of the macrophages. Tissue smears and histological preparations suggest that these cells may originate from both the amnion and the fibrovascular membrane covering the neural lesion. This direct method of observation of amniotic fluid cells, not involving culture techniques, could provide a rapid means of prenatal diagnosis of anencephaly, and may help in the diagnosis of spina bifida.

Amniotic Fluid↗
PubMed1978

[Severe microphthalmus with Patau's syndrome (author's transl)].

The authors describe a new-born child with Patau's syndrome in which D-trisomy was zytogenetically proved. The interest in this case is justified by the fact that an anophthalmos was suspected on clinical examination, but the histological examination showed a severe grade of bulb hypoplasia. The authors stress the significance of chromosome examination in cases of multiple congenital deformities associated with eye changes.

Chromosomes, Human, 13-15↗
PubMed1977

Grandmaternal age at birth of parents of children with trisomy 21.

The authors investigated the age of the parents and grandmothers of 262 children with simple trisomy 21. In cases in which the mother was under 30, the mean grandmaternal age was higher than that of the controls. This might mean that some of these cases, being the children of old mothers, began their lives as trisomic zygotes. The authors assume that not only maternal but also paternal mosaicism might be significant. They evaluate their results in light of genetic counseling and in consideration of practical conclusions that can be used in prenatal genetic diagnosis.

Adult↗
PubMed1977

Down's syndrome: chromosome analysis of 362 cases in Hungary.

A survey is given of the karyotypes observed in 362 children clinically diagnosed as cases of Down's syndrome from whom material was sent to 8 collaborating cytogenic laboratories in Hungary during the period 1965-1974. The sample studied cytogenetically constitutes about 20% of all children born in Hungary in this decade with Down's syndrome. The ways in which patients were selected for cytogenetic examinations could not be specified. In the sample, standard trisomy 21 was found in 91.7%, translocations in 3.9% and mosaicism in 4.4%. The mean age of the mothers of the children investigated was 29.05 years, a relatively low figure which may be explained by the decrease of the mean maternal age over the last decades.

Adult↗
PubMed1977

Gonadal malignancy and 46, XY karyotype in a true hermaphrodite.

A case of true hermaphroditism associated with gonadoblastoma and dysgerminoma is reported. The patient had a 46, XY karyotype. The possible significance of the Y chromosome in the development of gonadal tumors and the histogenetic problems of gonadoblastoma are also discussed.

Adult↗
PubMed1976

The natural duration of cervical carcinoma.

On the basis of patients from Hungary, as well as literary data, the authors endeavour to determine time course averages for cervical carcinoma. They are of the opinion that a women with typical cervical carcinoma enters the in situ stage at the age of 32.8 years and dies of it at the age of 62.51 years.

Adult↗