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Reciprocal translocation mosaicism in man

โœ Scribed by Fryns, Jean-Pierre ;Kleczkowska, Alice ;Opitz, John M.

Book ID
101442700
Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
86 KB
Volume
25
Category
Article
ISSN
0148-7299

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Mosaicism for a balanced reciprocal translocation is uncommon. These two new cases were detected during investigation of infertility and miscarriages. Otherwise, the probands were normal. Of five previously described cases, only one was possibly syndromal. More reports of this class of chromosomal a

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Mosaicism for a balanced reciprocal translocation (BRTM) is rare. As far as we know only 26 cases of BRTM, demonstrated in lymphocyte cultures, have been described, five of which had an abnormal phenotype. Prenatally three confirmed cases with a normal phenotypic outcome have been described. Here we