Sunday, April 12, 2009

Phenotype of duplication 5q at different ages

A unique duplication illustrates the similar facial
phenotypes at different ages: in a fetus at 22
weeks gestation (1), in a 5-month-old infant (2),
and in an 8-year-old child. The affected individuals
are siblings in one family. The partial
duplication 5q33-qter resulted from a paternal
reciprocal translation (Passarge et al., 1982). A
number of other duplications are associated
with characteristic phenotypes.

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