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Biomedical subjects

H A Gardner

Publications and source records attributed to H A Gardner.

At least 55 records · Page 3Linked to original sources
PubMed1980

Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.

A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.

Adult↗
PubMed1980

Familial retinoblastoma: segregation of chromosome 13 in four families.

Fluorescent markers on chromosome 13 have been used to study familial retinoblastoma. One family showed concordant segregation of a particular chromosome 13 and retinoblastoma from the affected parent to the affected children. In three other families, segregation was discordant. Meiotic crossing over with recombination is proposed as the explanation.

Adult↗
PubMed1979

Absence of chromosome breakage in patients with retinoblastoma.

Mixed lymphocyte cultures were employed to assess the degree of spontaneous chromosome fragility in patients with retinoblastoma. There was no difference between the patients and their controls. If chromosome instability plays a role in the inherited tumour, more sensitive methods need be employed to elucidate it.

Chromosome Aberrations↗
PubMed1979

Variation in chromosome 19.

Variations in centromeric staining of chromosome 19 appear to be an uncommon polymorphism inherited in a Mendelian manner and easily seen in G-banded cells. It should not be misinterpreted as a structural cytogenetic abnormality.

Adult↗
PubMed1978

Isochromosome for the long arm of the Y in an infertile male.

A 37-year-old man investigated for infertility had bilateral atrophic testes. Cytogenetic investigations revealed a chromosome complement of 45,XO/46,Xi(Yq)/46,XY. Mechanisms for the origin of the i(Yq) are considered, and the relation of his chromosome constitution to his infertility and hypogonadism are discussed.

Adult↗
PubMed1977

Amniotic fluid testosterone in the prenatal determination of fetal sex.

In the field of genetics, a rapid and accurate test for the prenatal determination of fetal sex, especially in cases of sex-linked disorders, is desirable. Amniotic fluid testosterone was measured by the radioimmunoassay technique in 37 samples obtained at saline abortion between 16 and 19 weeks' gestation. Final confirmation of fetal sex was obtained from fetal gonadal histology. In pregnancies with male fetuses, the mean amniotic fluid testosterone value of 27.6 ng. per 100 ml. was significantly higher (p less than 0.001) than the mean value of 9.6 ng. per 100 ml. found in pregnancies with female fetuses. The range for pregnancies with male fetuses was 15.5 to 41.3 ng. per 100 ml. and for those with female fetuses 5.7 to 15.1 ng. per 100 ml. With a coefficient of variation of 5 to 8% considered for the method of assay, there was an area of potential overlap from 12 to 18 ng. per 100 ml., giving a predictive error of approximately 16%. For patients in whom the results are clearly outside the area of overlap, this test is of value as a preliminary screen in the prenatal determination of fetal sex, especially in X-linked disorders.

Amniotic Fluid↗
PubMed1976

Placental cultures for cytogenetic assessment in saline-aborted fetuses.

Confirmation of cytogenetically abnormal fetuses following saline abortion has been shown to be possible with the placenta as the source of viable fetal cells. The method is described in detail. In one third of cultures, only female cells were present. Differentiation between maternal and female fetal tissue when no numerical or structural cytogenetic disorder is present requires detailed analysis of fluorescently stained chromosomes for polymorphisms.

Abortion, Induced↗
PubMed1976

The buccal smear: Reassessment of its usefulness.

Over a 7-year period 43 patients who underwent sex-chromatin and cytogenetic studies in the investigation of a disorder related to reproductive function were found to have abnormalities of the sex or autosomal chromosomes that could not have been detected by routine buccal smear. Therefore, testing for sex chromatin is of no value to the clinician, because full chromosome analysis must be performed irrespective of the findings from the buccal smear. However, the sex-chromatin test is an aid to the cytogeneticist in interpreting the chromosome analysis. In addition to those with amenorrhea and oligospermia or aspermia, persons with hypospadius and those to be treated with fertility drugs should undergo cytogenetic studies.

Cheek↗
PubMed1976

Trisomy 18 and cyclopia.

A stillborn male infant with cyclopia, holoprosencephaly, extracephalic malformations, and trisomy 18 is described. The importance of chromosome studies in infants with severe congenital malformations is discussed.

Abnormalities, Severe Teratoid↗
PubMed1974

Males with chronic myeloid leukemia and the 45, XO, Ph1 chromosome pattern.

Two cases of chronic myeloid leukemia in which the cytogenetic clone was 45, XO, Ph(1) are described and compared with 20 cases recorded in the literature. The 45, XO line is peculiar to the leukemic cells and is not a manifestation of constitutional mosaicism. It probably arises from a 46, XY, Ph(1) line by loss of the Y chromosome. Because of the few cases reported, one cannot be certain that these men have a better prognosis, although the median survival time suggests that this is so. Infertility is not part of this disorder.

Adult↗