A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation.

Yang,  Seung Ho; Suh,  Eok Soo; Kim,  Woo Taek

Case Report

Journal of the Korean Society of Neonatology 2006;13(2):288-293.
Published online November 1, 2006.

A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation.

Seung Ho Yang, Eok Soo Suh, Woo Taek Kim

¹Department of Pediatrics, School of Medicine, Catholic University of Daegu, Korea. wootykim@cu.ac.kr
²Daegu Veterans Hospital, Daegu, Korea.

모체의 균형 전위에 의한 10번 염색체 장완의 부분 단체성과 22번 염색체 장완의 부분 삼체성 1례

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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.

Key Words: Partial monosomy; Trisomy; 10q; 22q; Balanced translocation