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The infant presented with apparently low\u2010set ears, overfolded helices, epicanthal folds, prominent nasal bridge, high\u2010arched palate, micrognathia, bilateral dislocated hips, left genu recurvatum, and cryptorchidism. Chromosome analysis showed an unusual karyotype: 47,XY,+inv(9qh+)\/47,XY,+mar. The marker chromosome was thought to be a remnant of the inv(9qh+) chromosome. The mother's karyotype was 46,XX,inv(9qh+), while the father's was 46,XY.<\/jats:p><jats:p>At age 5 months, the patient developed seizures and gastroesophageal reflux. Crohn disease was diagnosed at age 2 years, although symptoms began at age 1 year. Recurrent bouts of pneumonia have occurred since the patient's birth. Severe psychomotor retardation was also noted.<\/jats:p><jats:p>Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reproted since then. Of these case reports, only 5 patients were older than 1 year. Inflammatory bowel disease has been reported in association with other chromosome abnormalities, but to our knowledge, has not been reported in trisomy 9 syndrome. \u00a9 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560304","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:00:26Z","timestamp":1118512826000},"page":"258-264","source":"Crossref","is-referenced-by-count":32,"title":["Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature"],"prefix":"10.1002","volume":"56","author":[{"given":"Jamie","family":"Wooldridge","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janice","family":"Zunich","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00444348"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1981.tb07185.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1542\/peds.66.1.63","article-title":"The association of inflammatory bowel disease and X chromosomal abnormality","volume":"66","author":"Arulanantham K","year":"1980","journal-title":"Pediatrics"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.25.2.188"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80297-0"},{"key":"e_1_2_1_7_1","first-page":"109","article-title":"The trisomy 9 syndrome","volume":"7","author":"Carpenter BF","year":"1982","journal-title":"Perspect Pediatr Pathol"},{"key":"e_1_2_1_8_1","first-page":"63","article-title":"Complete trisomy 9: two additional cases","volume":"28","author":"Delicado A","year":"1985","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_9_1","first-page":"165","article-title":"Trisomy 9 mosaicism in a girl with multiple malformations","volume":"33","author":"Diaz\u2010Mares L","year":"1990","journal-title":"Ann Genet (Paris)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295589"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.184"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00297630"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.4.316-a"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.5.390"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.25.4.325"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.2.180"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090513"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220204"},{"key":"e_1_2_1_19_1","first-page":"665","article-title":"Clinical delineation of trisomy 9 syndrome","volume":"56","author":"Katayama PK","year":"1980","journal-title":"Obstet Gynecol"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(74)80068-7"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.4.280"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01317.x"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)80444-2"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00202405"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.18.5.377"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.96.6.1420"},{"key":"e_1_2_1_27_1","series-title":"Natality: DHHS Pub. 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