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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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.
Tupler, Rossella; E., Pagliano; L., Barbierato; G., Lanzi; P., Maraschio; E., Fazzi
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11380/459457
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