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Journal of the Korean Society of Neonatology 2003;10(1):103-107.
Published online May 1, 2003.
A Case of 13q- Syndrome with Arthrogryposis Multiflex Congenita.
Yang Sim Ko, Min Seon Kim, Sam Im Choi, Soo Chul Cho
1Department of Pediatrics, College of Medicine, Chonbuk National University, Chonju, Korea. chosc@moak.chonbuk.ac.kr
2Department of Laboratory Medicine, College of Medicine, Chonbuk National University, Chonju, Korea.
선천성 다발성 관절구축증을 동반한 13q 결실 증후군 1례
, , ,
1
2
Abstract
13q- syndrome is a rare genetic disorder characterized by psychomotor retardation, hypotonia, microcephaly, retinoblastoma, ptosis and coloboma. Facial and congenital heart anomalies are also found and about 60% of males have genital and anorectal malformations. We report a case of 13q- syndrome male infant with many of afore mentioned features including imperforate anus, penoscrotal inversion, dolichocephaly, large low set ears, micrognathia, bifid scrotum with arthrogryposis, diagnosed by chromosomal analysis using synchronized high resolution G-banding technique which revealed of 46, XY, del(13) (q22) in all 20 metaphases. Echocardiogram and kidney sonogram were normal.
Key Words: Chromosome 13, Deletion, Arthrogryposis multiflex congenita


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