Trisomy 9 syndrome: Report of a case with Crohn disease and review of the literature

J. Wooldridge, J. Zunich

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

We report on a 6-year-old boy with mosaic trisomy 9. The patient was born at 42 weeks of gestation to a 27-year-old G1 white woman. Birth weight 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 ears, overfolded helices, epicanthal folds, prominent nasal bridge, high-arched 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. 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. Trisomy 9 syndrome was first reported in 1973. Over 30 cases have been reported 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.

Original languageEnglish
Pages (from-to)258-264
Number of pages7
JournalAmerican Journal of Medical Genetics
Volume56
Issue number3
DOIs
StatePublished - 1995

Fingerprint

Crohn Disease
Karyotype
Micrognathism
Chromosomes
Mars
Cryptorchidism
Apgar Score
Palate
Gastroesophageal Reflux
Genetic Markers
Inflammatory Bowel Diseases
Nose
Birth Weight
Fathers
Chromosome Aberrations
Ear
Hip
Pneumonia
Seizures
Mothers

Keywords

  • chromosome
  • Crohn disease
  • human
  • inversion
  • mosaicism
  • pair 9
  • trisomy

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Trisomy 9 syndrome : Report of a case with Crohn disease and review of the literature. / Wooldridge, J.; Zunich, J.

In: American Journal of Medical Genetics, Vol. 56, No. 3, 1995, p. 258-264.

Research output: Contribution to journalArticle

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