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R\u2010, G\u2010 and RTBG\u2010banding chromosome analysis showed a normal male karyotype. Fine molecular characterization, by FISH, of terminal Xp microdeletion revealed an associated partial duplication. Further refinement of the molecular analysis indicated an inverted duplication of the Xp22.31\u2013Xp22.32 (13.7 Mb) region including the <jats:italic>STS<\/jats:italic>, <jats:italic>VCX\u2010A<\/jats:italic> and <jats:italic>KAL1<\/jats:italic> genes, associated with a terminal Xp deletion Xp22.33\u2010Xpter (3.6 Mb) encompassing the <jats:italic>SHOX<\/jats:italic> and <jats:italic>ARSE<\/jats:italic> genes. Such rearrangements have been characterized for other chromosomal pairs, but this is the first reported male patient involving the short arm of the X chromosome. Molecular analysis of the maternal and patient's microsatellite markers showed interchromatid mispairing leading to non\u2010allelic homologous recombination to be the most likely mechanism underlying this rearrangement. This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro\u2010rearrangements. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31744","type":"journal-article","created":{"date-parts":[[2007,5,11]],"date-time":"2007-05-11T22:46:53Z","timestamp":1178923613000},"page":"1236-1243","source":"Crossref","is-referenced-by-count":13,"title":["First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental 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