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Mosaicism for duplication 12q (12q13-->q24.2) in a dysmorphic male infant.

1993; BMJ; Volume: 30; Issue: 1 Linguagem: Inglês

10.1136/jmg.30.1.70

1468-6244

Joanne Dixon, Thaís Virgínia Moura Machado Costa, Ikuko Teshima,

Genomics and Chromatin Dynamics

We report the clinical findings in a boy with mosaicism for a duplication of chromosome 12q13.1-->q24.2. His clinical characteristics are very similar to previously reported mosaic duplications of the distal long arm of 12, as well as several cases with non-mosaic duplications. It is proposed that this represents a clinically distinguishable syndrome for 12q duplication, in mosaic or non-mosaic form.