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Article

Mosaic variegated aneuploidy with microcephaly: a new human mitotic mutant?

Annales de genetique - 1 Jan 1991

Warburton D, Anyane-Yeboa K, Taterka P, Yu C Y, Olsen D

Abstract excerpt

We report the case of a 17 year old girl with severe microcephaly and mental retardation, in whom karyotype analysis of PHA-stimulated lymphocytes, cultured skin fibroblasts, direct and cultured bone marrow and EBV-transformed lymphoblasts all showed at least 10% of cells with trisomy, which could be for many different chromosomes. All trisomies except 5, 10, 13, 14 and 17 were observed. Tissue-specific...

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PMID: 1809239

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