Case Report Array-CGH and quantitative PCR genetic analysis in a case with bilateral hypoplasia of pulmonary arteries and lungs and simultaneous unilateral renal agenesis
Kais Hussein, Doris Steinemann, Henrike Scholz, Ralf Menkhaus, Henning Feist, Hans Kreipe
Institute of Pathology, Hannover Medical School, 30625 Hannover, Germany; Institute of Cell and Molecular Pathology, Hannover Medical School, 30625 Hannover, Germany; Privat practice for gynaecology, 32427 Minden, Germany; Institute of Pathology, Diakonissenkrankenhaus Flensburg, Flensburg, Germany, formerly Institute of Pathology, Hannover Medical School, Hannover, Germany.
Received July 26, 2010; accepted August 17, 2010; available online August 18, 2010
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. (IJCEP1007009).
Keywords: Array-CGH; quantitative PCR; bilateral hypoplasia of the lung; unilateral renal agenesis