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Biomedical subjects

G den Dulk

Publications and source records attributed to G den Dulk.

11 recordsLinked to original sources
PubMed1991

Ring chromosome 15 and 15qs+ mosaic: clinical and cytogenetic behaviour spanning 29 years.

A phenotypic female with mild mental retardation, minor facial anomalies, and short stature has been evaluated clinically and cytogenetically over 29 years. At age 59, she remains physically well and shows no signs of dementia. Cytogenetic analysis, performed on peripheral blood specimens on 10 occasions between 1961 and 1990, showed mosaicism with one cell line containing a large stable ring (15) chromosome and another cell line without the ring but with a 15qs+. The different cell lines remained constant. The case provides information on the natural history of the ring chromosome 15 syndrome.

Adult↗
PubMed1990

Cytogenetic studies in perinatal death.

Following tissue culture cytogenetic studies were performed on tissue obtained from 136 fetuses who died in the perinatal period (98 stillbirths and 38 neonatal deaths). The gestational age of the stillbirths was evenly distributed between 20 and 40 weeks (1 was 42 weeks) while 74% of the neonatal deaths were term babies. Analyzable metaphases were obtained in 45 stillbirth specimens (46%) and 32 neonatal specimens (84%). Abnormal karyotypes were identified in 7 of the stillbirths (15.5%) and 8 of the neonatal deaths (25%) and all these were from babies with congenital anomalies identified at autopsy. Time delays were crucial to the success of culture from stillbirths, but specimens obtained from neonatal deaths could be grown successfully up to 3 days after death. Generally the placenta was more viable than other tissues, including skin, cartilage and muscle. Whereas growth was obtained in 69% of fresh unexplained stillbirths, no tissue from the macerated stillbirths grew. This is a group which may have a high abnormality rate. We recommend that if fetal assessment during pregnancy suggests a compromised fetus and there are no maternal factors to account for this, an amniocentesis be performed.

Chromosome Aberrations↗
PubMed1987

Cytogenetic findings in cell lines derived from four ovarian carcinomas.

Six cell lines, established from four primary ovarian carcinomas were examined cytogenetically. The lines varied greatly in their chromosome complement. All cells from the lines were aneuploid, although one cell line contained two populations having a pseudodiploid and a pseudotetraploid modal chromosome number. Every chromosome group was involved with loss and gain of chromosomes, but some individual chromosomes were more prone to aneuploidy than others. Chromosome #6 was the most stable throughout. Structural changes gave rise to many marker chromosomes. Although most markers were random and the majority unidentifiable, some abnormalities of clonal origin were found. Deletions especially of chromosome #1, were the most common change. Further sequential studies may elicit the origin, stability, and timing of the chromosome abnormalities.

Adenocarcinoma↗
PubMed1980

A severely retarded 18-year-old boy with tertiary partial trisomy 14.

An 18-year-old severely mentally and physically retarded boy was found to have an unbalanced chromosome complement 47,XY, + 14q-. He had the characteristic facial dysmorphis, abnormal hands, and other features described previously in cases of partial trisomy 14, but appears to be the oldest case reported. His mother is a reciprocal translocation carrier, and lack of other carriers in the family is noteworthy.

Abnormalities, Multiple↗
PubMed1979

An abnormal dicentric X chromosome in a patient with short stature and gonadal dysgenesis.

A 16 year-old girl with short stature and gonadal dysgenesis was found to have a chromosomal complement consisting of 46,X,dic(X) (qter yields p22::p22 yields qter). When comparing her clinical features with 7 other cases who appeared to have precisely the same abnormal dicentric X, it was found that even though the percent of 45,X cells present varied considerably from patient to patient, these patients were remarkably similar and the stigmata, of Turner's syndrome were minimal in this group as a whole.

Adolescent↗