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Using comparative genome hybridization, MLPA and qPCR we identified the largest contiguous \u223c16\u2009Mb terminal 1p36 deletion reported to date. It covers both distal and proximal regions, causes a neonatally lethal variant with virtually exclusive features of distal 1p36 monosomy, highlighting the key importance of the gene\u2010rich distal region for the \u201ccompound\u201d 1p36 phenotype and a threshold deletion\u2010size effect for haplo\u2010lethality. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33210","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T19:54:27Z","timestamp":1310068467000},"page":"1964-1968","source":"Crossref","is-referenced-by-count":11,"title":["Contiguous \u223c16\u2009Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with 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