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Biomedical subjects

J Philip

Publications and source records attributed to J Philip.

At least 199 records · Page 11Linked to original sources
PubMed1976

45,XO Turner's syndrome without evidence of mosaicism in a patient with two pregnancies.

A case of Turner's syndrome (45,XO) with two pregnancies is reported. There was no evidence of mosaicism after chromosomal investigation of 5 different tissues (2 ovaries, blood, skin, uterus). Pregnancy occurred in both cases after withdrawal of substitutional hormone therapy. The first pregnancy ended with abortion of a macerated hydrocephalic female fetus. Chromosome studies could not be carried out. The second pregnancy ended with delivery by caesarian section of a normal boy (46,XY). Prenatal chromosome analysis was not carried out for ethical reasons.

Adult↗
PubMed1976

The frequency of chromosome aberrations in tall men with special reference to 47, XYY and 47, XXY.

All men born during the years 1944-1947 to mothers who were inhabitants of Copenhagen when they gave birth, were identified. The adult heights of all but 2,552 of these 31,438 men were obtained; a group of 4,591 men at least 184 cm tall were selected for examination. Samples for chromosome studies were obtained from 4,139 (90.2%) of these tall men. A total of 41 (1%) abnormalities were identified (33 sex chromosome abnormalities, including 12 XYYs (0.3%) and 16 XXYs (0.4%), 6 autosomal abnormalities, and two of uncertain origin). The XYY and XXY groups were taller than the selected sample of tall XY men.

Adult↗
PubMed1975

Prenatal karyotyping of twins by ultrasonically guided amniocentesis.

Twins were diagnosed with ultrasound in two women who had been referred because of a higher than normal risk of having malformed children. Amniocentesis was carried out under the guidance of ultrasound and amniotic fluid from both fetuses was removed for diagnostic procedures. Injection of Congo red proved that the amniocentesis needle was not re-entering the same amniotic cavity at repeated puncture. In both mothers the fetuses were found to be of different sexes. Mixture of maternal cells was excluded by means of quinacrine staining, allowing evaluation of chromosome markers.

Adult↗
PubMed1975

Alpha fetoprotein levels in maternal serum and in amniotic fluid from early normal pregnancies.

Alpha fetoprotein (AFP) was determined in serum from 241 women in the 8th to 43rd week of gestation by quantitative radioimmunoelectrophoresis, and in 103 amniotic fluid samples from the first half of pregnancy by rocket immunoelectrophoresis. Both serum and amniotic fluid samples were obtained from a larger material, but samples were included only from pregnant women whose infants were normal at birth. The 90% normal AFP range was calculated both for maternal serum and for amniotic fluid.

Alpha-Globulins↗
PubMed1975

Concurrence of turner's syndrome and anorexia nervosa.

The ninth known case of the concurrence of anorexia nervosa and Turner's syndrome is presented. The question whether the presence of Turner's syndrome represents a greater risk for a patient to develop anorexia nervosa is considered.

Adult↗
PubMed1975

A cytogenetic study of gonadoblastoma tissue in two cases.

The hypothesis that gonadoblastoma (gonocytoma III) arises from gonadal tissue with a male chromosome complement has earlier been forwarded. In the literature there is no case with a well documented diagnosis of gonadoblastoma and absence of a Y chromosome. In the two presented cases, one a phenotypic female, the other a phenotypic male, gonadoblastoma was diagnosed. Cytogenetic studies of the removed gonadoblastomas revealed a Y chromosome in both cases. This is in accordance with the hypothesis.

Adolescent↗