Biomedical subjects

W Tünte

Publications and source records attributed to W Tünte.

At least 19 recordsLinked to original sources

PubMed1991

Linkage analysis in X-linked adrenoleukodystrophy and application in post- and prenatal diagnosis.

We have performed linkage analysis with the DNA markers DXS52 and the clotting factor VIII gene (F8C), in several large families with X-linked adrenoleukodystrophy (ALD). The tight linkage to DXS52 could be extended giving a maximal LOD score of 22.5 at 1 cM. F8C was also tightly linked to ALD with a maximal LOD score of 7.8 without recombination. Multipoint linkage analysis with the markers DXS304, DXS52, and F8C indicated that both the gene for ALD and for F8C are distal to DXS52. In four patients with ALD, no major structural rearrangement in the Xqter region was observed; in particular, there were no abnormalities in the vision blindness genes. DNA analysis appeared to be of use in determination of the carrier status of females at risk, for the determination of the origin of the mutation in a particular family, and for prenatal diagnosis.

Adrenoleukodystrophy↗

PubMed1989

Robinow syndrome with parental consanguinity.

We describe the clinical features of Robinow syndrome in the first child of a consanguineous Turkish couple. This observation supports the view that severe vertebral anomalies are a feature of the autosomal-recessive form of Robinow syndrome.

Abnormalities, Multiple↗

PubMed1988

[Placental chorioangioma and fetal abnormalities].

We report on a postpartally decreased girl with several malformations: turricephalus, deep root of the nose, prognathism, choanal atresia, low-set dysplastic ears, fourth additional blood vessel originating from the thoracic aorta. Nearly 70% of the placenta consisted of multiple chorioangiomas. A possible correlation between fetal malformations and placental chorangiomas is discussed. There is no valuable reference to a hereditary component in the development of chorioangiomas.

Abnormalities, Multiple↗

PubMed1977

[Acrocephalopolysyndactyly (type II (McKusick) acrocephalosyndactyly or Carpenter's syndrome. Report on 4 cases and an observation of the syndrome of Marshall-Smith (author's transl)].

Four observations of Carpenter's Syndrome, two siblings and two unrelated children, and a case of Marshall-Smith's Syndrome are reported, all sharing duplication of the terminal phalanx of the big toe and a dyskephaly. Carpenter's Syndrome has been noted in at least 27 cases inheritance; is autosomalcessive. Main features are: oxycephaly, odd facies, brachyclinosyndactyly of the hands, polysyndactyly of the feet, cardiac malformation. The question is to be answered whether all cases are genetically identical.

Abnormalities, Multiple↗

PubMed1972