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

• Autorzy: Lugli L. , Malacarne M. , Cavani S. , Pierluigi M. , Ferrari F. , Percesepe A.
• Języki publikacji: EN

Abstrakty

EN

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.

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2011
• Tom: 52
• Numer: 3
• Opis fizyczny: p.335-339,fig.,ref.

Twórcy

autor

Lugli L.

• Neonatology Unit, Department of Mother and Child, University of Modena, Modena, Italy

autor

Malacarne M.

autor

Cavani S.

autor

Pierluigi M.

autor

Ferrari F.

autor

Percesepe A.

Uwagi

PL

Rekord w opracowaniu