{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T00:33:09Z","timestamp":1760747589710,"version":"build-2065373602"},"reference-count":15,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1981,10]]},"abstract":"<jats:p>A female infant with trisomy 9 in 58% of her cells is reported. Multiple congenital malformations were present, but she had normal psychomotor development. A pericentric inversion involving a portion of the centromeric heterochromatin of chromosome 9 was identified in the patient and her mother. This variant chromosome 9 was present in duplicate in the trisomic line. Since similar variants of 9qh have been found repeatedly in this syndrome, we feel that this association may be a non-random one.<\/jats:p>","DOI":"10.1136\/jmg.18.5.390","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"390-392","source":"Crossref","is-referenced-by-count":15,"title":["Normal psychomotor development in a child with mosaic trisomy and pericentric inversion of chromosome 9."],"prefix":"10.1136","volume":"18","author":[{"given":"M","family":"Frydman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Shabtal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I","family":"Halbrecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Elian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1981,10,1]]},"reference":[{"key":"ref_1","first-page":"271","article-title":"mosaicism with punctate mineralization in developing cartilages","volume":"9","author":"Eur JPediatr","year":"1979","unstructured":"Akatsuka A, Nishiya 0, Kitagawa T, Kageyama A, Inana 1, Nakagome Y. 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