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Journal of the Korean Society of Neonatology 2009;16(1):76-80.
Published online May 1, 2009.
A Case of a del(8p)/dup(8q) Recombinant Chromosome.
Jeong Young Kim, Hyo Bin Im, Sang Hee Son, So Young Jeong, Min Jung Sung, Son Sang Seo
1Department of Pediatrics, Good Moon Hwa Hospital, Busan, Korea. dr_kjy@hanmail.net
2Department of Laboratory Medicine, Good Moon Hwa Hospital, Busan, Korea.
3Department of Pediatrics, Good GangAn Hospital, Busan, Korea.
8번 염색체 단완 결실과 장완 중복을 동반한 신생아 1례
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Abstract
A male baby with intrauterine growth retardation had a short neck, small hands and feet, hypospadia, both grade I hydronephrosis, type II atrial septal defect, and moderate valvular pulmonary stenosis. The routine chromosome and banding analyses revealed a 46,XY,rec(8)del(8)(p21)dup(8) (q24.1)inv(8)(p21q24.1)pat chromosome constitution. His mother has normal chromosomes, but the father had 46,XY,inv(8)(p21q24.1). Also his uncle had an inv(8) chromosome constitution. We used lymphocytes and examined 40 mitotic cells. All mitotic cells showed deletion of 8p21-->pter and duplication of 8q24.1-->qter. Because 8p21 involves secretion of macrophage and lymphocyte against cancer cells, long-term follow-up for cancer will be needed.
Key Words: Deletion 8p; Duplication 8q


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