Biomedical subjects
Publications and source records attributed to S Gilgenkrantz.
A ring 6 chromosome was detected in a 18 months old boy. The patient was a dwarf with psychomotor retardation, morphological anomalies i.e. microcephaly, bird head shaped facies with large ears, arched palate and micrognathia. A survey of 9 others cases collected in the medical literature permit to propose a specific phenotype for this chromosomal abnormality.
Explore the source record for details and available documents.
Any couple that has given birth to an abnormal child wants to know whether such an accident may reoccur. If wrongly reassured, they may see a new malformed child born. If they are wrongly advised against having a baby, they may use permanent sterilisation. Genetic advice is thus very important and should be carried out by a team which has available the necessary facilities for diagnosis and calculation of the precise risk.
Explore the source record for details and available documents.
The authors report two cases of infants with an XXYY chromosomal constitution. The anomaly was suspected in the presence of a particular facies associated with abnormalities of development of the external genitalia. The diagnosis was confirmed rapidly and easily by immunofluorescent study of buccal scrapings and polynu clear cells. Early diagnosis is a value with regard to family counselling.
During the three last years, the authors carried out cytogenetic studies of couples with spontaneous abortions, and of spontaneously aborted foetuses. Among 99 couples studied, 9 abnormal karyotypes were detected. In two cases, maternal balanced translocation appears obviously responsible. Concerning aborted foetuses on 46 karyotyped specimens, 13 are found to bear chromosome anomalies. The authors consider the value of cytogenetic studies when repeated spontaneous abortions occur.
The different aspects of chromosomes in culture with B.U.D.R. are described. The times of B.U.D.R. action are 1/2, 1, 2 and 3 mitotic cycles. Four different aspects are obtained. For each time, 250 mitosis are studied, and classified. The results seem to confirm the semiconservative replication.
A boy, suffering from severe mental and motor retardation, was found to be the carrier of an apparently balanced chromosomal rearrangement studied by autoradiography and fluorescence.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
In the so-called "cat-eye" syndrome are associated the following malformations: coloboma iridis, anal atresia, pre-auricular fistullae with an extra 47th chromosome of the G group type. About twenty cases have already been reported. Some are familial cases and some have the complete phenotype but without the extra chromosome. Even if the structure of the material of this element is doubtful, its responsability in the phenotype is likely. This case is reported since the patient has pituitary dwarfism and normal intelligence.
Explore the source record for details and available documents.
A patient with ovarian failure was found to have a segment of the long arm of an X chromosome translocated to the distal end of the short arm of a 2nd chromosome: 46,Xt(X;2) (q21;p25). The Barr bodies were of normal size. Autoradiographic and B.U.D.R. studies showed that the normal X was the late-replicating X. The translocated segment was late replicating in 5% without spreading effect. It is suggested that preferential inactivation of the normal X chromosome is observed when a segment of X chromosome is translocated onto an autosome. When a segment of autosome is translocated onto an X chromosome the abnormal X chromosome is consistently late-replicating. These findings may be available for other mammalian species in the balanced translocations.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.