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A Case of Del 13(q24) Syndrome with Multiple Anomalies

Korean Journal of Pediatrics 2004;47(10):1128-1131.
Published online October 15, 2004.
A Case of Del 13(q24) Syndrome with Multiple Anomalies
Sang Yun Lee, Hee Jung Jung, In Hea Nam, Mea Young Jang
Department of Pediatrics, College of Medicine, Chungnam National University, Daejeon, Korea
다발성 선천 기형을 보이는 13(q24) 결실 증후군 1례
이상윤, 정희정, 남인혜, 장미영
충남대학교 의과대학 소아과학교실
Mea Young Jang, Email: mychang@cnuh.co.kr
It has been estimated that chromosomal aberrations account for 2.3% to 3% of normal pregnancies, and of them, 85% are aborted. Therefore, the survival rate of neonates with chromosomal aberrations is very low. Among them, patients with partial deletion of the long arm of chromosome 13 are very rare. The natural history of deletion of the long arm is dependent on the deleted segment. It has been known that patients with proximal deletions not extending into q32 usually show mild to moderate mental retardation, variable minor anomalies, and growth retardation. Patients with more distal deletions, including at least part of q32, usually have severe mental retardation, growth deficiency, and major malformations including microcephaly and CNS defects, distal limb anomalies, eye defects, and gastrointestinal malformation. We report a case of a 13(q24) deletion male infant who showed intrauterine growth retardation, imperforate anus, CNS anomalies, hydronephrosis, clubfoot, clinodactyly and developmental delay, although his deletion site was proximal to q32.
Key Words: 13q deletion, 13(q32), Chromosome disorder

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