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

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 cases 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.

Epilepsi ve Fasiyal Dismorfizm ile Gelen Trizomi 9 Mozaisizm: Bir Olgu Sunumu

“…Motor and mental retardation are the most common neurological symptom in this syndrome. But, normal neurodevelopmental state also have been reported in mosaic form of this syndrome in some previously reports 7 . Our patient had neurodevelopmental delay.…”

“…Gastrointestinal abnormalities are also infrequent 7,8 . Motor and mental retardation are the most common neurological symptom in this syndrome.…”

Low incidence of UPD in spontaneous abortions beyond the 5th gestational week

“…26 ± 29 So far, there is neither evidence of imprinted genes on chromosome 21 nor in the syntenic regions on mouse chromosome 16. However, the possibility exists that UPD (21) may show imprinting effects limited to placental tissue and in vitro growth which would explain the anlage defect in our case. Genomic imprinting could be specific to developmental stages, promotor specific or tissue specific, as recently described by brain specific imprinting of the UBE3A-gene in Angelman syndrome.…”

“…Therefore, maternal UPD(9) appears to be without major clinical consequences unless a recessive mutation is reduced to homozygosity, 18,19 whereas trisomy 9 mosaicism results in severe congenital anomalies. 20,21 In this respect, we believe that the more probable cause for the abortion event in case 1 is not UPD(9)mat, but purulent chorioamnionits.…”

Cardiac Failure in a Trisomy 9 Patient Undergoing Anesthesia: A Case Report

“…It is most commonly caused by a meiotic error and is associated with advanced maternal age, similar to other trisomy syndromes. 4,5 It can occur in complete or mosaic form, and results in a distinct clinical picture. 6 The phenotype of complete trisomy 9 includes growth restriction, micrognathia, a bulbous nose, low-set ears, cleft palate, skeletal abnormalities, heart abnormalities, hypoplastic genitalia, developmental delay, and renal and neurological abnormalities.…”