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Journal of the Korean Society of Neonatology 2008;15(2):200-206.
Published online November 1, 2008.
A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies.
Seung Gu Chang, Jae Eun Yu, Moon Sung Park, Yun Ju Lim, Soo Han Yoon, Jeong Hong
Department of Pediatrics, Neurosurgery* and Surgery, Ajou University School of Medicine, Suwon, Korea. jeyumd@ajou.ac.kr
다발성 기형을 동반한 염색체 9번 단완 첨가 1례
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Abstract
Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.
Key Words: Heteromorphisms, Addition, Chromosome 9, Multiple anomalies


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