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Biomedical subjects

Z Papp

Publications and source records attributed to Z Papp.

At least 343 records · Page 19Linked to original sources
PubMed1975

[The value of cytogenetic investigations in the differential diagnosis of abnormalities in sex differentation (author's transl)].

This report is concerned with the scope of cytogenetic investigations in the diagnosis of sex abnormalities. In the majority of cases the karyotype leads to correct diagnosis only when the clinical picture and the histology of the gonads are known. It is only rarely possible to identify the phenotype from the chromosome picture, as for instance in the case of XO or XXY karotypes. Cytogenetic investigations can be considered advisable in the diagnosis of sex differentiation disorders in the following cases: a) in the case of ambiguous external sex organs; b) in primary amenorrhoea; c) in secondary amenorrhoea, above all in the case of early menopause; d) in male hypogonadism and in certain cases of gynaecomastia.

Adrenal Hyperplasia, Congenital↗
PubMed1975

Monozygotic twins with concordance for Down's syndrome and congenital heart disease.

Cytogenetic, clinical, and other findings are presented on a pair of same-sex, monochorial MZ twins concordant for both trisomy 21 and congenital heart disease. The literature on Down's syndrome in twins and on congenital heart disease in twins is reviewed and the exceptional occurrence of concordant congenital heart disease in MZ twins is stressed.

Abnormalities, Multiple↗
PubMed1975

Familial 21/22 translocation.

A family is described with 21/22 translocation, where chromosome segregation appeared to follow theoretical expectations, rather than empirical risk figures, in male and female carriers alike. The usefulness of prenatal genetic studies in genetic counseling is also demonstrated.

Adult↗