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

✍ Scribed by Tupler, Rossella; Pagliano, Emanuela; Barbierato, Laura; Lanzi, Giovanni; Maraschio, Paola; Fazzi, Elisa

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 15 KB
Volume: 62
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960315)62:2<160::aid-ajmg8>3.0.co;2-#

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✦ Synopsis

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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