1992 Volume 28 Issue 5 Pages 961-965
An 11day-old boy with 13q-syndrome associated with Hirschsprung's disease is reported. He was admitted to the NICU in our hospital because of SFD. Abdominal distension and vomiting had been seen since he was 5 days old because of Hirschsprung's disease. Diagnosis of Hirschsprung's disease was established and a colostomy was performed at 13 days of age. A cytogenetic study was carried out and interstitial deletion of the distal long arm segment of chromosome 13 was observed. The karyotype was 46, XY, del (13) (q14.3-q32.1). Cases of 13q-syndrome associated with abnormalities of the gastrointestinal tract are rare. Four cases of 13q-syndrome associated with Hirschsprung's disease have been reported, including our case, and in two of them resection of the affected segment was performed. At 7 months of age, his body weight is only 5200g, there is evidence of mental retardation and attacks of cyanosis are sometimes seen.
