Ring F chromosome mosaicism (46,XY,20r-46,XY) in an epileptic child without apparent haematological disease.
نویسندگان
چکیده
they were present in the peripheral blood of the mother, they either did not survive for more than 4 weeks, or at least they disappeared from the circulation. They were not selected out in a long term leucocyte culture. The latter fact however is not surprising as we have been unable to detect the marker chromosome specific of the leukaemic cells in established long term leucocyte cultures in 12 patients with Ph' positive CML and in 2 other patients with acute leukaemia (H. van den Berghe, unpublished data).
منابع مشابه
Agenesis of the corpus callosum with mosaicism 46,XY/47,XY, extra ring chromosome.
A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and...
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Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
متن کاملGrowth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth.
45,X/46,XY mosaicism is a rare sex chromosome disorder of sex development. Short stature is a main feature of boys with this condition. Different causes likely contribute to growth impairment. Growth hormone (GH) has been administered to treat short stature in boys with 45,X/46,XY mosaicism, but conflicting data are available. Here, spontaneous growth patterns as well as short- and long-term fo...
متن کاملJ 7 ournal of Medical Genetics ( 1971 ) . 8 , 117 . Presumptive 46 , XX / 46 , XY / 47 , XXY Mosaicism in a Hermaphrodite AMALA
Contrary to the expected XX/XY sex chromosome complements in hermaphroditism, a variety of karyotypes have been reported instead. Dewhurst et al. (1965) summarized from published reports the karyotypic findings in 27 patients with convincing evidence ofhermaphroditism, as follows: 46,XX (17); 46,XY (2); 46,XX/47,XXX (1); 46,XX/46,XX + Frag (1); 46,XX/46,XY (3); 46,XX/47,XXY/ 49,XXYYY (1); 46,XX...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 9 4 شماره
صفحات -
تاریخ انتشار 1972