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

作者：Lugli Licia; Malacarne Michela; Cavani Simona; Pierluigi Mauro; Ferrari Fabrizio; Percesepe Antonio^*

来源：Journal of Applied Genetics, 2011, 52(3): 335-339.

DOI：10.1007/s13353-011-0033-5

• 19q microduplication
• CGH array
• Phenotype

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.

• 出版日期2011-8