An unusual case of mosaic Down's syndrome involving two different Robertsonian translocations.
نویسندگان
چکیده
A baby girl with some of the stigmata of Down's syndrome was found to be a mosaic with three different cell lines: 45,XX,-13,-21,+t(13q21q)/(46,XX/46,XX, -21,+t(21q21q). The chromosome rearrangements detected in this patient appear to have arisen de novo. In the normal cell line the terminal end of the p arm of one chromosome 21 is thought to have been damaged. It seems probable that this is related to the other chromosomal anomalies found.
منابع مشابه
Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.
The occurrence of mosaic Down's syndrome with two independent Robertsonian translocation cell lines is very rare. Such a patient is reported here, in whom an unbalanced Robertsonian translocation between two chromosomes 21 was detected in the majority of cells. The patient also revealed a minor cell line with a second Robertsonian translocation involving a chromosome 21 and a 22. The chromosome...
متن کاملThe prevalence of translocations in parents of children with regular trisomy 21: a possible interchromosomal effect?
It has been suggested that translocations, and perhaps other chromosome rearrangements, disturb meiotic disjunction of uninvolved chromosome pairs and predispose to trisomic offspring. If so, then one would expect an excess of translocations not involving chromosome 21 among the parents of regular trisomic Down's syndrome patients. Such translocations have been reported, but mostly as anecdotal...
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A reciprocal chromosome translocation between 7q and 10q and an unrelated Robertsonian translocation involving 14q and 21q were found in a healthy 44-year-old man, in his normal 18-year-old son, and in his mother. They were ascertained through the man's brother, whose grandson has Down's syndrome as a result of an inherited 14q21q translocation. To our knowledge, this is the second report of a ...
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CONFLICT OF INTEREST none declared. AIM The aim of this research was to ascertain the frequency of three basic cytogenetical types of Down syndrome among Kosova Albanian population and to evaluate the maternal age effect on the frequency of births of children with Down syndrome. METHODS Cytogenetics diagnosis has been made according to the standard method of Moorhead and Seabright. RESULT...
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We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 3 شماره
صفحات -
تاریخ انتشار 1989