A Case of Unusual (1q;21q) Translocation Down Syndrome Inherited from a t (1q;21q) Balanced Carrier Mother.
- Author:
Dong Hoon YI
;
Jae Ock PARK
;
Sang Mann SHIN
;
You Kyoung LEE
;
Won Bae KIM
;
Won Bae LEE
;
Sung Sup PARK
;
Han Ik CHO
- Publication Type:Case Report
- Keywords:
Down syndrome;
Familial;
Translocation;
FISH
- MeSH:
Arm;
Down Syndrome*;
Humans;
Incidence;
Korea;
Mothers*;
Trisomy
- From:Journal of the Korean Pediatric Society
1997;40(8):1156-1161
- CountryRepublic of Korea
- Language:Korean
-
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.
