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Genomic DNA was purified from the patient's blood and semiquantitative multiplex PCR revealed a deletion encompassing the amelogenin gene (<jats:italic>AMELX<\/jats:italic>). Because MLS is also localized to Xp22, genomic DNA was subjected to array comparative genomic hybridization, and a large heterozygous deletion was identified. Histopathology of one primary and one permanent molar tooth showed abnormalities in the dental enamel layer, and a third tooth had unusually high microhardness measurements, possibly due to its ultrastructural anomalies as seen by scanning electron microscopy. This is the first report of a patient with both of these rare conditions, and the first description of the phenotype resulting from a deletion encompassing the entire <jats:italic>AMELX<\/jats:italic> gene. More than 50 additional genes were monosomic in this patient. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32968","type":"journal-article","created":{"date-parts":[[2009,7,18]],"date-time":"2009-07-18T06:28:56Z","timestamp":1247898536000},"page":"1698-1705","source":"Crossref","is-referenced-by-count":15,"title":["A large X\u2010chromosomal deletion is associated with microphthalmia with linear skin defects (MLS) and amelogenesis imperfecta (XAI)"],"prefix":"10.1002","volume":"149A","author":[{"given":"Grace M.","family":"Hobson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolyn 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