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A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay

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Lugli L., Malacarne M., Cavani S., Pierluigi M., Ferrari F., Percesepe A.

Journal of Applied Genetics

2011

tom 52

nr 3

The interstitial duplication of the long arm of chromosome 19 is a rare abnormality, characterized by developmental delay and dysmorphic features, also reported in association with cardiac, urinary, and CNS malformations. We describe a new case of de novo 19q12-q13.2 duplication characterized by fluorescent in situ hybridization (FISH) and array comparative genomic hybridization (CGH) and, by reviewing the data from previous articles, we report a tentative genotype/phenotype correlation. Four previously described cases showed the same or overlapping 19q duplications and shared with our patient common dysmorphisms, psychomotor retardation, and CNS malformations. The present description of a new case of 19q12-q13.2 duplication with a molecular cytogenetic and genomic characterization adds further elements to the understanding of the impact of the genomic segment on the phenotype.

Ograniczanie wyników

1 Journal of Applied Genetics

1 Cavani S.

1 Ferrari F.

1 Lugli L.

1 Malacarne M.

1 Percesepe A.

1 Pierluigi M.

1 2011

Wyniki wyszukiwania

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay