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Cytogentic Survey of Children with Mental Retardation

Journal of the Korean Pediatric Society 1970;13(6):337-344.
Published online June 30, 1970.
Cytogentic Survey of Children with Mental Retardation
Hyung Ro Moon
Department of Pediatrics, College of Medicine, Seoul National University
정신박약아에 대한 세포 유전학적 연구
문형노
서울대학교 의과대학 소아과학교실
Abstract
Seven children with Down’s syndrome, five boys and two girls, were included to cytogenetic survey. All of the children were clinically diagnosed by the presence of various combinations of microsymptoms or stigmata frequently observed in Down’s syndrome. To supply additional evidence for the diagnosis, data on the direct observation of dermatoglyphic patterns were also recorded. Chromosomal analyses revealed diploid number of 47 with trisomy-21 chromosome constituent in all except for one boy whose karyotype demonstrated 46, XY, D—,t (Dq Gq)+. Some of the pertinent cytogenetic and mental retardation were mentioned in the review.


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