| A Case of 7q-Syndrome |
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Ja Hyun Park, Baek Gil Lee, Il Kyung Kim, Jung Sik Min, Chang Hee Choi |
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Department of Pediatrics, Seoul Adventist Hospital, Seoul, Korea |
| 7q-증후군(7q327qter)1례 |
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박자현, 이백길, 김일경, 민정식, 최창희 |
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서울위생병원 소아과 |
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| Abstract |
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7q-syndrome, although rare, is a well defined syndroime which usually arises de novo. Characteristic clinical features include severe growth and metal retardation, microcephaly, low birth weight, broad nasal bridge with bulbous nasal tip, large, low set ears and genital anomalies. We experienced a male newborn with clinical features suggestive of chromosomal anomaly which was confirmed to be a 7q-(q32-qter) syndrome by cytogenetic analysis. A brief review of literature was made. |
| Key Words:
7q-syndrome, Chromosomal anomaly |
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