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A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t(1q;21q) Balanced Carrier Mother

Journal of the Korean Pediatric Society 1997;40(8):1156-1161.
Published online August 15, 1997.
A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t(1q;21q) Balanced Carrier Mother
Dong Hoon Yi1, Jae Ock Park1, Sang Mann Shin1, You Kyoung Lee2, Won Bae Kim2, Won Bae Lee3, Sung Sup Park4, Han-Ik Cho4
1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea
2Department of Clinical Pathology, College of Medicine, Soonchunhyang University, Seoul, Korea
3Department of Pediatrics, College of Medicine, Catholic University, Seoul, Korea
4Departmennt of Clinical Pathology, College of Medicine, Seoul National University, Seoul, Korea
균형 전좌형 보인자 모에서 발생한(1q;21q) 전좌형 Down 증후군 1례
이동훈1, 박재옥1, 신상만1, 이유경2, 김원배2, 이원배3, 박성섭4, 조한익4
1순천향대학교 의과대학 소아과학교실
2순천향대학교 의과대학 임상병리학교실
3가톨릭의대 소아과학교실
4서울대학교 의과대학 임상병리학교실
Abstract
Down syndrome is the most common autosomal syndrome in man. The incidence of trisomy 21 due to translocation is about 3.5-5%. Translocations are usually centric fusions between a 21 and a D group (54.2%) or a G group (40.9%) chromosome. Since the short arm of 21 carries no phenotypically active genes, even if the short arm of 21 is lost, usually there is no imbalance with clinical significance. Rare translocations in Down syndrome may also occur between a 21 and other chromosomes (4.9%). We experienced a case of unusual (1q;21q) translocation Down syndrome inherited from a t(1q;21q) balanced carrier mother. The segmental trisomy was confirmed by FISH analysis. This is the first case of a familial Down syndrome with t(1q;21q) in Korea.
Key Words: Down syndrome, Familial, Translocation, FISH


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