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, R., E., P., L., B., G., L., P., M., E., F.. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. - ISSN 0148-7299. - STAMPA. - 62:(1996), pp. 160-163. [10.1002/(sici)1096-8628(19960315)62:2<160::aid-ajmg8>3.0.co;2-#]
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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