New chromosome aberration: Duplication of a large part of chromosome 4q and partial deletion of chromosome 1q

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Abstract
We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,−1, + der(1),t(1;4) (q44;q23 or 24)mat. She is the first patient with an unbalanced translocation involving chromosomes 4 and 1. There is a substantial amount of concordance between the phenotypic features of this patient and those described in the context of partial deletion 1q. The extensive duplication of 4q has no dominant clinical effects in the present infant. These facts support the general concept of much more deleterious effects of deletions versus duplications in human species.