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1996•American Journal of Medical GeneticsOpen access

Mild phenotype associated with inv dup 8 (q21.2‐q22.3) of maternal origin

Rossella Ginevra Tupler, Emanuela Pagliano, Laura Barbierato, Giovanni Lanzi, Paola Maraschio, Elisa M. Fazzi

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Abstract

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

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What this paper is about

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

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Available abstract

We report on a girl with a de novo inverted duplication of chromosome 8 (q21.2-q22.3) associated with a mild phenotype. We were able to establish the maternal origin of the rearranged chromosome. We discuss the correlation between genotype and phenotype on the basis of a review of the findings from individuals with partial dup(8q).

Key concepts: dup, Phenotype, Genetics, Gene duplication, Biology, Genotype-phenotype distinction, Genotype, Chromosomal inversion

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