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정신박약아에 대한 세포유전학적 연구

Cytogentic Survery of Children with Mental Retardation

소아과 1970년 13권 6호 p.17 ~ 24
문형노,
소속 상세정보
문형노 (  ) - 서울대학교 의과대학 소아과학교실

Abstract


Seven children with Down´s syndrome, five boys and two girls, were inclucled 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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KoreaMed
KAMS