모체의 균형 전위에 의한 10번 염색체 장완의 부분 단체성과 22번 염색체 장완의 부분 삼체성 1례
A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation
양승호, 김우택, 서억수,
소속 상세정보
양승호 ( Yang Seung-Ho )
대구가톨릭대학교 의과대학 소아과학교실
김우택 ( Kim Woo-Taek )
대구가톨릭대학교 의과대학 소아과학교실
서억수 ( Suh Eok-Soo )
대구보훈병원
KMID : 0438520060130020288
Abstract
Partial monosomy of chromosome 10q is a rare chromosomal anomaly. Most cases of partial deletion 10q have chromosome breakpoints in the 10q25 or 10q26 region. Recently about 30 cases with breakpoint in the 10q26 region have been reported. Partial trisomy of chromosome 22q is also a rare chromosomal anomaly. Most cases of partial duplication 22q are 22q proximal segment duplications known as Cat-eye syndrome. The other cases, 22q11.2 microduplications and 22q distal long arm (22qter) duplications, are also reported but exceedingly rare. We experienced a male neonate who had facial dysmorphisms, congenital heart defect and cryptorchidism. His chromosomal analysis revealed an deletion of chromosome 10q26.1-->qter and duplication of chromosome 22q11.2-->qter caused by maternal balanced translocation e.g. partial monosomy 10q and partial trisomy 22q. Although some cases of partial monosomy 10q were accompanied by other chromosomal abnormalities, this combination of chromosomal abnormalities has not been reported in the literature.
키워드
Partial monosomy;Trisomy;Trisomy;10q;22q;Balanced translocation
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