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. © 2011 Institute of Plant Genetics, Polish Academy of Sciences, Poznan.

A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay / Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio. - In: JOURNAL OF APPLIED GENETICS. - ISSN 1234-1983. - 52:3(2011), pp. 335-339. [10.1007/s13353-011-0033-5]

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

Percesepe, Antonio
2011-01-01

Abstract

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. © 2011 Institute of Plant Genetics, Polish Academy of Sciences, Poznan.
2011
A 12.4 Mb direct duplication in 19q12-q13 in a boy with cardiac and CNS malformations and developmental delay / Lugli, Licia; Malacarne, Michela; Cavani, Simona; Pierluigi, Mauro; Ferrari, Fabrizio; Percesepe, Antonio. - In: JOURNAL OF APPLIED GENETICS. - ISSN 1234-1983. - 52:3(2011), pp. 335-339. [10.1007/s13353-011-0033-5]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/2839165
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