Down's syndrome with 47,XX,+21-47,XX,+mar mosaicism.
نویسندگان
چکیده
منابع مشابه
Trisomy 21 with 47,+18 lymphocyte cell line: double mitotic nondisjunction.
A patient with Down's syndrome was found to have 47,XX,+18/47,XX,+21 mosaicism. Chromosome 18 trisomy was found only in 18% of lymphocytes and not in skin fibroblasts. A likely interpretation is double nondisjunction in a single lymphocyte precursor of a trisomy 21 embryo. A brief review of other cases of mitotic multiple nondisjunction and double aneuploid mosiacism is presented.
متن کاملPrenatal diagnosis and genetic analysis of a fetus with 47,XX,+21/46,XX mosaicism and XX/XY chimerism.
Prenatal diagnosis of simultaneous occurrence of chimerism and autosomal mosaicism is extremely rare. We report the prenatal diagnosis and genetic analysis of a fetus in a twin pregnancy with mosaic 47,XX,+21/46,XX with chimeric XX/XY. A 36-year-old, para 1, woman was referred for genetic counseling at 20 weeks' gestation because of abnormal karyotype (47,XX,+21/46,XX) in one fetus in a twin pr...
متن کاملTrisomy 21 mosaicism in two successive generations in a family.
The occurrence of 46,XX/47,XX,+21 mosaicism in two successive generations implies an aetiological relationship between the 47,XX,+21 cell line of the mother and her daughter.
متن کاملDizygotic twins with Down's syndrome.
father and G trisomy in the two mongol children, but revealed 5 cells with 47 chromosomes among 70 cells counted from the mother. In 4 of these cells the extra chromosome was from the G group, and in the remaining cell it was a C group chromosome. On these results maternal mosaicism with karyotype 46,XX/47, XX,G+ was diagnosed. In 1971 the couple elected to have a further child despite the risk...
متن کاملJ 7 ournal of Medical Genetics ( 1971 ) . 8 , 117 . Presumptive 46 , XX / 46 , XY / 47 , XXY Mosaicism in a
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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عنوان ژورنال:
- Journal of medical genetics
دوره 10 2 شماره
صفحات -
تاریخ انتشار 1973