Article
Inverted duplication of 15q with terminal deletion in a multiple malformed newborn with intrauterine growth failure and lethal phenotype.
American journal of medical genetics. Part A - 1 Aug 2004
Genesio Rita, Rita Genesio, De Brasi Daniele, Daniele De Brasi, Conti Anna, Anna Conti, Borghese Annamaria, Annamaria Borghese, Di Micco Pasqua, Pasqua Di Micco, Di Costanzo Pasquale, Pasquale Di Costanzo, Paladini Dario, Dario Paladini, Ungaro Paola, Paola Ungaro, Nitsch Lucio, Lucio Nitsch
Abstract excerpt
We describe the cytogenetic and molecular characterization of an inverted duplication of chromosome 15q with evidence of a terminal deletion of the same rearranged chromosome. The proband was a multiple congenital malformed female with a prenatal diagnosis of trisomy 15q and an extremely severe clinical course. The phenotype of the patient was characterized by marked intrauterine growth retardation, congenital...
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