| A Case of Duplication 9p Syndrome(Partial Trisomy 9p) |
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Me Gyoung Lee1, Young-Nae Roh1, Young-Hoon Kim1, Chung Sun Baek2, Me Gyoung Sin2, Jin Lee1, Pil-Sang Jang1, Jin-Tack Kim1, Kweon-Haeng Lee3, Kyung-Tai Whang1 |
1Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea
2Sam Kwang Reference Laboratories, Seoul, Korea
3Department of Pharmacology, College of Medicine, The Catholic University of Korea, Seoul, Korea |
| Duplication 9p Syndrome 1례 |
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이미경1, 노영래1, 김영훈1, 백청순2, 신미경2, 이진1, 장필상1, 김진택1, 이권행3, 황경태1 |
1가톨릭대학교 의과대학 소아과학교실
2삼광임상검사센터
3가톨릭대학교 의과대학 약리학교실 |
Correspondence:
Young-Hoon Kim, Email: pedkyh@catholic.ac.kr
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| Abstract |
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Trisomy 9p syndrome was first described by Rethore, et al in 1970 and about 150 cases have been reported. Trisomy 9p has been reported as either partial or complete. The term "duplication 9p syndrome" instead of "trisomy 9p syndrome" is used since most of the reported patients had only partial duplication rather than the whole arm duplication of 9p. Duplication of 9p syndrome is characterized by growth and developmental retardation, microbrachycephaly, deep and wide set eyes with down-slanting palpebral fissures, "globular" nose, down-turned corners of the mouth, prominent apparently low-set ears, and short fingers and toes with small nails. A 10- month-old male was referred to our department of pediatrics because of hypotonia and delayed development. Karyotype revealed 46, XY, dup(9)(p12p24) by GTC-Banding. We report a case of a duplication 9p syndrome diagnosed by GTC-banding. |
| Key Words:
deep and wide set eyes with down-slanting palpebral fissures |
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