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Here we report on the identification of a 1.37 Mb <jats:italic>de novo<\/jats:italic> deletion of chromosome 16q24.1\u2010q24.2 by microarray\u2010based comparative genomic hybridization (aCGH) technique in a newborn boy with lethal severe alveolar capillary dysplasia and multiple congenital anomalies who died of irreversible pulmonary hypertension, respiratory failure and cor pulmonale at three days of age. The phenotypic findings and causal genes (<jats:italic>FOXF1<\/jats:italic> and <jats:italic>FOXC2)<\/jats:italic> involved in producing this unusual syndrome are detailed. Our findings independently confirm the results in a previous publication describing multiple patients with similar clinical and genetic observations, and highlight the importance of scanning human genomes at high resolution for identifications of micro\u2010imbalances as pathogenic causes in neonates with unexplained congenital anomalies. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33378","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T20:36:32Z","timestamp":1271190992000},"page":"1257-1262","source":"Crossref","is-referenced-by-count":64,"title":["Haploinsufficiencies of <i>FOXF1<\/i> and <i>FOXC2<\/i> genes associated with lethal alveolar capillary dysplasia and congenital heart disease"],"prefix":"10.1002","volume":"152A","author":[{"given":"Shihui","family":"Yu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lei","family":"Shao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Howard","family":"Kilbride","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David L.","family":"Zwick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,4,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(200005)218:1<136::AID-DVDY12>3.0.CO;2-U"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.9.081307.164207"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1901"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2028"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.2001.280.5.L823"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.modgep.2004.07.004"},{"key":"e_1_2_6_8_1","first-page":"169","article-title":"A cytogenetic survey of 14,069 newborn infants. 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