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Abnormal phenotype in a child with a “balanced” translocation 8/12 in mosaic state

✍ Scribed by Saura, R. ;Longy, M. ;Serville, F. ;Chokairi, O. ;Froute, M. F. ;Neri, Giovanni

Publisher: John Wiley and Sons
Year: 1987
Tongue: English
Weight: 134 KB
Volume: 28
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320280432

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## Abstract We report a family in which six individuals were carriers of a translocation between chromosomes 8 and 12. The balanced carriers had a chromosome constitution: 46,XX or 46,XY,t(8;12)(021;p13). Six individuals in five generations were mentally retarded. Three of them were examined; their