Cytogenetic studies in polycythemia vera.
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Biomedical subjects
Publications and source records attributed to L Y Hsu.
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A consecutive series of 50 couples with a histroy of fetal wastage were studied cytogenetically with current banding technics. Fetal wastage was defined as occurring in couples who had more than two early abortions, stillbirth(s) or livebirths(s) or both of infants with multiple congenital anomalies. Three women were found to be balanced reciprocal translocation carriers; all translocations were not detectable by the conventional method but were demonstrable by current banding technics. In addition to the translocation carriers, one woman was found to be a mosaic for 45,X/46,XX/47,XXX. Four of the parents showed increased mitotic instability or chromosome breakage and rearrangement, or both. Parental chromosome abnormalities may therefore account for fetal wastage in between 6 and 16 per cent (or about one in 10) of couples having such a history. Such couples, if identified, can potentially benefit by prenatal monitoring of future pregnancies.
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Initial diagnosis of Rubinstein-Taybi syndrome was made in an infant with a prominent nose and broad thumbs and first toes. However, due to the presence of other anomalies such as low-set, malformed ears, anti-mongoloid slant of the eyes, colobomata of the iris, and cleft palate, cytogenetic studies were carried out and the diagnosis of trisomy 13 was confirmed. Since, occasionally, trisomy 13 syndrome may mimic the Rubinstein-Taybi syndrome, cytogenetic studies should be considered in all patients with clinical diagnosis of Rubinstein-Taybi syndrome.
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A reliable plaque assay procedure has not yet been described for the neonatal calf diarrhea virus. Therefore, a previously developed immunofluorescent cell counting procedure was adapted to assay this virus. Adsorption of the virus to bovine kidney cells plateaued at 60 minutes. The optimal staining time was between 20 and 24 hours postinfection. Infected cells begun releasing from the coverslips if the cultures were incubated longer than 24 hours. This procedure has proven successful with virus grown in cell culture as well as virus present in fecal samples.
A balanced reciprocal translocation involving the long arms of a No. 4 and a No. 11 chromosome, t(4;11) (q25;q13), was found in a mother who had one spontaneous first trimester abortion and 2 abnormal infants, as well as in her 2 phenotypically normal children. This translocation was not detectable by conventional karotyping since the two exchanged chromosome segments are almost identical in size; it was demonstrated by the new banding technic which allow us to recognize and to identify each chromosome and its segments accurately.
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