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).
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin / Tupler, Rossella; E., Pagliano; L., Barbierato; G., Lanzi; P., Maraschio; E., Fazzi. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 62:(1996), pp. 160-163.
Mild phenotype associated with inv dup 8 (q21.2-q22.3) of maternal origin
TUPLER, Rossella;
1996
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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