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Biomedical subjects

M Mikkelsen

Publications and source records attributed to M Mikkelsen.

At least 127 records · Page 7Linked to original sources
PubMed1977

Possible localization of Gc-System on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-System.

A mentally retarded girl with a sporadically occurring B/F translocation was reexamined with new banding techniques. Chromosome material from the long arm of chromosome 4 was inserted into the long arm of chromosome 20. The segment 4q11 leads to q13 was lost. The formerly reported abnormal segregation of the Gc-system was verified. The localization of the Gc-locus on the lost segment cannot be ruled out.

Blood Group Antigens↗
PubMed1977

Aniridia, cataract and gonadoblastoma in a mentally retarded girl with deletion of chromosome II. A clinicopathological case report.

A case of bilateral aniridia, cataract and mental deficiency is described in a girl with an interstitial deletion of the short arm of chromosome 11. The child died of pneumonia and on autopsy bilateral gonadoblastoma was detected, but no Wilms' tumour. Partial deletion of the short arm of chromosome 11 seems to be a clinically recognizable syndrome with aniridia, cataract and renal, gonadal or genital dysmorphogenesis.

Cataract↗
PubMed1976

Maternal and paternal origin of extra chromosome in trisomy 21.

Fluorescence markers were studied in 40 patients with Down's syndrome and their parents. In 11 cases maternal and in 5 cases paternal non-disjunction could be shown. The disjunctional event occurred in the first meiotic division in 5 maternal and in 2 paternal cases. A second division failure was found in 4 maternal and 2 paternal cases. In 3 cases the failure could either be of first or second meiotic division origin.

Adult↗
PubMed1976

Cytogenetic studies in sideroblastic anemia.

Cytogenetic studies were performed on bone marrow aspirates from seven patients with acquired sideroblastic anemia. In one male patient a 45,X cell line was present in each of three bone marrow aspirates. The remaining six patients had a normal chromosome complement. The abnormal stem line in the bone marrow may be unrelated to the hematologic disorder or may indicate a neoplastic process still latent. The cytogenetic literature on sideroblastic anemia is reviewed.

Aged↗
PubMed1976

48, XXXY Klinefelter syndrome and nail-patella syndrome in the same child.

A patient is described who in addition to having the 48, XXXY Klinefelter syndrome has the autosomal dominant nail-patella syndrome, inherited through his mother from the grandfather. Clinical signs of both syndromes were found. Chromosomal investigation with BUDR incorporation and acridine orange staining showed that one X chromosome stained intensively, while the other X chromosomes were elongated and weakly stained. Difference in degree of stretching of the supernumerary chromosomes was noted. The occurrence of the two rare syndromes in the same patient is assumed to be fortuitous.

Child, Preschool↗
PubMed1976

Incidence study of Down's syndrome in Copenhagen, 1960-1971; with chromosome investigation.

The aim of the study was to obtain incidence figures for Down's syndrome throughout a period where a considerable change in the age distribution of child-bearing mothers has taken place and to study if the expected fall in incidence has occurred. In parts of the Copenhagen Metropolitan area 235 liveborn patients with Down's syndrome were ascertained in the period 1960 to 1971 in a population of 1-2 million with a total of 204771 births. All patients available were examined cytogenetically (75%). In 160 (90-4%) a regular trisomy 21 was observed. In 6-2% of the cases translocations and in 2-3% of the cases mosaics were found. Two double trisomies and a double trisomy mosaic were observed. Throughout the period 1960-71 the percentage of women over 30 years delivering children decreased from 23-4% in the beginning of the period to 16-2% at the end of the period. In the first part of the period 52-6% of the cases were born to mothers over 30, at the end of the period 40% of Down's syndrome mothers were of that age. However, the incidence was unchanged throughout the whole period, about 1-15 per 1000 births. For some age groups a steady rise in incidence of trisomy 21 cases was found throughout the whole period. These findings may be explained by better ascertainment of patients at the end of the period; however, environmental factors may also play a role.

Adolescent↗
PubMed1976

The G syndrome. A four-generation family study.

A male infant with hypertelorism, hypospadias, swallowing difficulties with tendency to regurgitation and cough, high arched palate, and a delicate voice, consistent with the G syndrome, is reported. In the family the same symptoms in addition to cleft lip and palate were known in several family members through four generations. In the females only slight manifestations of the syndrome were found, and in the males variable expression of symptoms was observed. Autosomal dominant inheritance is likely, but X-linked inheritance cannot be ruled out.

Abnormalities, Multiple↗
PubMed1975

Extra-hepatic storage of copper: a male foetus suspected of Menkes' disease.

The distribution of copper among the organs of an aborted, male foetus, expected to develop Menkes' syndrome, was entirely different from the distribution in 4 normal foetuses. Copper concentrations determined by neutron activation analysis showed a considerably reduced content in the liver, but increased concentrations in the other organs analysed; total foetal copper was normal.

Brain Diseases↗
PubMed1975

The value of fluorescence markers in the distinction between maternal and fetal chromosomes.

Selected fluorescence markers of chromosomes were studied in 50 paired samples of cells obtained by culture of amniocentesis material and by culture of leukocytes from pregnant women. Comparative analyses showed that this method is of great value in disclosing admixture of maternal cells to material obtained by amniocentesis, as a minimum of 2 fluorescence marker differences between mother and fetus was found in the present material. The distribution of markers in mother/fetus pairs is in agreement with the assumption of genetic determination. Variation was observed between populations with respect to the frequency of the markers studied.

Amniocentesis↗
PubMed1975

Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.

Cytogenetic studies of a family with two children with Down's syndrome have revealed a balanced reciprocal translocation between chromosomes No. 7, 11 and 21 in the mother. One of three daughters has inherited this translocation. two mongoloid daughters have a supernumerary chromosome No. 21 in addition to the translocation.

Adolescent↗
PubMed1975

Trisomy 9p in a patient with a de novo 9/15 translocation.

Mental retardation, facial dysmorphism, hypertelorism, antimongoloid eye slants, epicanthus, globular nose, malformed ears, bone abnormalities, one flexion crease on 5th finger, simian crease, and speech difficulties with delayed expressivity were found in a girl with trisomy of the short arm of chromosome 9. The 9p+ syndrome was due to a sporadic translocation of the short arm of chromosome 9 onto the short arm of chromosome 15.

Child↗
PubMed1975

Mortality and life-table in Down's syndrome.

The causes of death in 130 patients with Down's Syndrome and mortality rates from a material of 524 patients were tabulated; a life-table for the ages over 5 years was constructed. An overall death rate of 5-7 times the general population rate was found. No sex difference was observed. The excess mortality was expecially high for heart disease and respiratory disease. Also infectious diseases, others than pneumonia and tuberculosis, showed high mortality rates.

Adolescent↗
PubMed1975

A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate.

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.

Child, Preschool↗