| A Case of 21-Monosomy with Holoprosencephaly(Semilobar Type) |
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So Young Lee, Sung Min Cho |
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Department of Pediatrics, College of Medicine, Dongguk University, Kyoungbuk, Korea |
| Holoprosencephaly를 동반한 21-Monosomy 1례 |
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이소영, 조성민 |
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동국대학교 의과대학 소아과학교실 |
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| Abstract |
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Holoprosencephaly of unknown definite causes, has been associated with several chromosome abnormalities involving the autosomes and the sex chromosomes. The most commonly reported associations include dup(3p), del(7q), deletions of chromosome 13, trisomy 13, trisomy 18, and triploidy. In previously reported cases in Korea, none were associated with chromosome 21 anomalies. In conclusion, we reported the first case of holoprosencephaly(semilobar type) associated with pure monosomy 21. We experienced a semilobar type holoprosencephaly with monosomy 21 in a neonate who had multiple congenital anomalies, including an abnormal face, a small thorax with widely spaced hypoplastic nipples and nail hypoplasia, lung hypoplasia with severe scoliosis and cardiac abnormalities. Chromosomal analysis revealed a 45, XY, -21. |
| Key Words:
Chromosome abnormality, Monosomy 21, Semilobar type holoprosencephaly |
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