Possible Maternal UPD3

The only potential case, reported in 1974, is suggested by the duplication in an offspring of the chromosomal heteromorphism of a mother heterozygous for chromosome 3 pericentric inversion, inv(3)(p12;q14), inherited from her own father (Betz et al., 1974). This slightly retarded woman had two nondysmorphic, mentally retarded daughters; one was heterozygous but the other homozygous for this chromosome 3 inversion. The father was unavailable for study. To explain this homozygosity, the authors considered the (consanguineous) mating of two closely related carriers of this inversion that was also present in several other nonretarded, family members. Since no DNA polymorphisms were available at the time, there is no formal demonstration of maternal UPD3 in this case.

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