title: Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis.
abstract: We describe the clinical course and have characterised anatomically and genetically a unique case of a newborn with bilateral hypoplasia of pulmonary arteries, consecutive extremely hypoplastic lung tissue and associated unilateral renal agenesis. Intrauterine oxygenation by the placenta seemed to have allowed normotrophic body maturity but immediately after delivery, in the third trimester, progressive hypoxemia developed and the newborn succumbed to acute respiratory failure. Genetic analysis by array-based comparative genomic hybridisation and quantitative PCR revealed duplication of 1p21, which, however, might not be the disease causing aberration. This case might represent an extreme form of previously reported, rare cases with simultaneous dysorganogenesis of lungs and kidneys.
authors.affiliation: Institute of Pathology, Hannover Medical School, 30625 Hannover, Germany. Hussein.Kais@MH-Hannover.de
authors.forename: Kais
authors.initials: K
authors.lastname: Hussein
authors.forename: Doris
authors.initials: D
authors.lastname: Steinemann
authors.forename: Henrike
authors.initials: H
authors.lastname: Scholz
authors.forename: Ralf
authors.initials: R
authors.lastname: Menkhaus
authors.forename: Henning
authors.initials: H
authors.lastname: Feist
authors.forename: Hans
authors.initials: H
authors.lastname: Kreipe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology*; D058674:Chromosome Duplication; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities*; D020411:Oligonucleotide Array Sequence Analysis; D011651:Pulmonary Artery / Q000002:abnormalities*; D020133:Reverse Transcriptase Polymerase Chain Reaction