All issues > Volume 24(9); 1981

Original Article

J Korean Pediatr Soc. 1981;24(9):812-819. Published online September 15, 1981.

Chromosome Study of the Congenital Anomaly and Mental Retardation in Korean Children.

Ra Lee, In Joon Seol, Woo Gill Lee, Soo Jee Moon, Chong Moo Park

¹Department of Pediatrics, Hanyang University College of Medicine, Seoul, Korea.

Abstract

The authors studie 111 cases of congenital anomalies and/or mental retardation. 56cases of congenital anomalies and/or mental retardations were cared and admitted at pediatric department in Han Yang University hospital. 55 cases were in institution for the mentally retarded. The authors studied chromosome analysis about 111 cases with congenital anomalies and/or mental retardation. The results obtained were as follows: A) Mentally retarded children in institution 1. Age distribution was among 5-20 years of age. 2. I.Q. distribution was revealed highest below 35 (in 25 cases) 3. Incidence of chromosomal anomalies was 16.3% in total studied cases. 4. The most common chromosomal anomaly was Down syndrome(12.7%). Other chromosomal anomalies were Poly X female and Edward syndrome 5. I.Q. distribution of Down syndrome patients was revealed most below 35 (over 86% of total cases). B) Congenital anomaly and/or mental retarded patients in admitted or cared in pediatric department 1. Age distribution was highest among 1 month-1year of age in 23 cases. 12 cases were 1 month after birth. 2. Incidence of chromosomal anomalies was 41% in total studied cases. There was no significanl difference in sex ratio. 3. In distribution of chromosomal anomalies, 18 cases were revealed numerical chromosomal anomalies and 5 cases were revealed structural chromosomal anomalies. 4. The most common numerical chromosomal anomaly was down syndrome(30.3%), other 1 case of them was D/D translocation. 5. Structural chromosomal anomalies were 46, XX,5p-,46,XX,t(15p:21q)/46,XX,46,XX/46,XY,46,XY and long Y,46,XY,del(14p) in karyotypes. 6. Classification of diagnosis in congenital anomalies and/or mental retardation was Down syndrome(19 cases), congenital heart disease(14 cases), cleft lip and cleft palate (8 cases), multiple anomalies, hermaphroditism, cerebral palsy, polydactyly, hypospadia, imperforated anus, giant baby, in this order.

Keywords :Congenital anomaly mental retardation chromosomal analysis