Trisomy 22 mosaicism.
نویسندگان
چکیده
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
منابع مشابه
Unilateral radial aplasia and trisomy 22 mosaicism.
A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 3 شماره
صفحات -
تاریخ انتشار 1977