TRISOMY-9 SYNDROME - REPORT OF A CASE WITH CROHN DISEASE AND REVIEW OF THE LITERATURE

We report on a 6-year-old boy with mosaic trisomy 9. The patient was b orn at 42 weeks of gestation to a 27-year-old G1 white woman. Birth we ight was 2,820 g, length 52 cm, and Apgar scores were 4 and 6 at 1 and 5 min, respectively. The infant presented with apparently low-set ear s, overfolded helices, epicanthal folds, prominent nasal bridge, high- arched palate, micrognathia, bilateral dislocated hips, left genu recu rvatum, and cryptorchidism. Chromosome analysis showed an unusual kary otype: 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 wa s 46,XX,inv(9qh+), while the father's was 46,XY. 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. R ecurrent bouts of pneumonia have occurred since the patient's birth. S evere psychomotor retardation was also noted. Trisomy 9 syndrome was f irst reported in 1973. Over 30 cases have been reported since then. Of these case reports, only 5 patients were older than 1 year. Inflammat ory bowel disease has been reported in association with other chromoso me abnormalities, but to our knowledge, has not been reported in triso my 9 syndrome. (C) 1995 Wiley-Liss, Inc.