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Biomedical subjects

M C Jansweijer

Publications and source records attributed to M C Jansweijer.

5 recordsLinked to original sources
PubMed1997

[Genetic counseling: should side issues become main issues?].

Three people applied for genetic counselling, but during the consultations the clinical geneticist discovered other problems for which advice could have been given but was not asked. This caused a serious dilemma. The first person was a woman who wanted to know the risks of epilepsy for her potential offspring, but then it became clear that she appeared to have Huntington's disease in the family. The second person was a man who wanted to know about the genetic risks for his offspring of a borderline psychiatric disorder, but the geneticist, seeing that the partner had severe limb defects, wondered whether these were caused by a genetic disorder. The third patient was a pregnant woman who came asking about the risks caused by mental retardation in one of her ancestors, but who appeared to be a heavy drinker and user of cocaine and ecstasy. In dealing with such 'secondary' problems, it should be kept in mind that persons seeking advice must decide for themselves whether or not they want to be informed regarding these problems or not.

Adult↗
PubMed1992

Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.

Alport syndrome is a hereditary renal disease in which progressive renal failure is often accompanied by sensorineural deafness and ocular abnormalities. Recently, mutations were detected in the type IV collagen alpha 5 chain gene in Alport syndrome patients. We searched for mutations in this gene in 18 unrelated patients, and in two patients abnormalities were detected. In the gene of patient BB we identified a complex deletion, which included the exons encoding the non-collagenous domain and part of the collagenous region. This patient showed early onset nephritis (end-stage renal disease at 17 years) with deafness. Within a year after receiving a kidney from an unrelated donor, he developed an antiglomerular basement membrane nephritis. In patient WJ a point-mutation was detected, changing a tryptophane into a serine in the non-collagenous domain. His clinical features are milder (renal failure at 33 years, no hearing loss), and a recent renal allograft did not provoke antiglomerular basement membrane disease. These initial data suggest that differences in the extent of disruption of the non-collagenous domain may correlate with the severity and/or heterogeneity of Alport syndrome and with the development of nephritis in renal allografts.

Amino Acid Sequence↗
PubMed1987

A male infant with holoprosencephaly, associated with ring chromosome 21.

An infant with holoprosencephaly and a karyotype 46,XY,r(21) is reported. No distinctive craniofacial features suggesting holoprosencephaly were present in this infant who presented with epilepsy, microcephaly and scoliosis with hemivertebra Th 10. This is the first report which links deletion of chromosome 21q to the holoprosencephaly phenotype.

Brain↗