| A Case of Wolf-Hirschhorn Syndrome Resulting from Familial Translocation |
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So Yeon Yoon, Jae Kyun Hur, Dae Chul Jeong, Won Bae Lee, Chang Kyu Oh |
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Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea |
| Familial Translocation에 의한 Wolf-Hirschhorn 증후군 1례 |
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윤소연, 허재균, 정대철, 이원배, 오창규 |
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가톨릭대학교 의과대학 소아과학교실 |
Correspondence:
So Yeon Yoon, Email: 1
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| Abstract |
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Wolf-Hirschhorn syndrome is caused by a partial loss of the distal short arm of chromosome 4. Characteristic clinical features are severe growth retardation, mental retardation, seizures, congenital cardiac defects, urogenital abnormalities, microcephaly, hypertelorism, prominent glabella, cleft lip and palate and micrognathia. In 87% of cases, chromosome 4 deletion arises as a de novo event, whereas in the remaining cases it is derived from a familial balanced translocation. Chromosomal study of the patient showed 46 ⅩⅩ der(4)t(4;18)(p15.2;q23), and the patient's mother was found to have a balanced translocation, 46 ⅩⅩ t(4;18)(p15.2;q23). |
| Key Words:
Wolf-Hirschhorn syndrome, Balanced translocation |
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