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Chromosome abnormalities of such cases have gone undetected or were incorrectly characterized because these regions are so\u2010called heteromorphisms or variants. Consequently, much anxiety has been aroused by the confusion between a chromosome abnormality and a normal heteromorphic variant. We report the first documented case with a so\u2010called highly unusual h region of chromosome 9 which is not a variation but a structural rearrangement involving a paracentric inversion and a duplication. The major clinical features were psychomotor retardation, microcephaly, narrow palpebral fissures, renal and genital anomalies, vertebral anomalies, protruding tongue, and learning and behavioral problems. A concise review of variable duplicated segments of 9q is also provided.<\/jats:p>","DOI":"10.1002\/ajmg.1320400111","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:12:40Z","timestamp":1118549560000},"page":"57-60","source":"Crossref","is-referenced-by-count":19,"title":["Inversion\u2010duplication of bands q13\u2192q21 of human chromosome 9"],"prefix":"10.1002","volume":"40","author":[{"given":"Sunny","family":"Luke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ram S.","family":"Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rhandy","family":"Pebenito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael 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