| Clinical and Cytogenetic Analysis of Children with Maternal Chromosomal Balanced Translocation |
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Han Hyuk Lim1, Hee Jeong Jeong1, Kyung Duk Park1, Sook Ja Kim2 |
1Department of Pediatrics, College of Medicine, Chungnam National University, Daejon, Korea
2South Korea and Korea Genetic Research Center, Korea |
| 모체의 염색체 균형전좌를 가진 환아들의 임상적 세포 유전학적 관찰 |
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임한혁1, 정희정1, 박경덕1, 김숙자2 |
1충남대학교 의과대학 소아과학교실
2한국 유전학 연구소 |
Correspondence:
Kyung Duk Park, Email: kdpark@cnuh.co.kr
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| Abstract |
Purpose
: Parents' genetic information plays an important role in their children's genetic expression. Human chromosome has 23-paternal chromosomes and 23-maternal chromosomes. Parental chromosomal translocation can induce clinical problems in their children because of imbalance in genetic information. We intent to analyze the cytogenentic and clinical features about children with maternal balanced translocation between chromosome 15 and 18.
Methods
: We detected by one family's FISH study of chromosome 15. We have evaluated children born to clinically normal parents about peripheral bood analysis, endocrine, metabolic, radiologic study, electroencephalogram and social & intelligence scale. and We analysis their clinical manifestation by hospital records.
Results
: Patient's father and elder sister are normal clinically and genetically. Her mother's chromosome show balanced translocation, 46, XX, t(15;18)(p11.2;p11.3). One child has 46, XX, der(18) t(15;18)(p11.2;p11.3), mental retardation, growth retardation, speech & social developmental delay, recurrent infection and mild mitochondria dysfunction. Her young brother has 46, XY, der(15) t(15;18) (p11.2;p11.3), mental retardation, aggressive behavior, obesity and speech developmental delay.
Conclusion
: In this study we observed the children with developmental delay, dysmorphic facial features, mental retardation, growth retardation associated with growth hormone deficiency and aggressive behavior due to unbalanced translocation between chromosome 15 and 18. |
| Key Words:
Balanced translocation , Chromosome 15 , Chromosome 18 |
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