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Journal of the Korean Pediatric Society 1980;23(9):761-765.
Published online September 15, 1980.
A Case of 18-Trisomy Syndrome.
Hae Soo Kim, In Ho Kim, Myung Sook Lee, Churl Young Chung
Dept. of Pediatrics, Seoul Paik Hospital, Inje Medical College, Korea.
Abstract
A case of 18-Trisomy Syndrome in a female newborn infant who was born to a mother of 32 years with hydramniosis old at PAIK hospital was presented. His father who was normal and 36 years old age. This baby had grossly multiple anomalies those were charactcrized by prominant occiput, small eyes and palpebral fissure, low set and malformed esars, hypoplasia of mandible and sternum. There was also tracheo-esophageal fistula with blind pauch and gastrostomy was introduced at the third day of life but she was expired at the fifth day of life. Meckel's divertic ulum, patent ductus arteriosus and ventricular septal defect had been found on autopsy. There was 18-Trisomy in karyotyping and chromosomal analysis revealed 47 chromosomes. This case was compatible to Edward syndrome on clinical feature and autopsy finding. A brief review of literature was included.


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