| 6p23 Deletion Syndrome : Report of a Case in a Preterm Baby |
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Hyeon-Soo Lee |
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Department of Pediatrics & Neonatal Medicine, College of Medicine, Kangwon National University, Chuncheon, Korea |
| 미숙아에서의 6p23 Deletion Syndrome 1례 |
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이현수 |
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강원대학교 의과대학 소아과학교실 |
Correspondence:
Hyeon-Soo Lee, Email: premee@kangwon.ac.kr
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| Abstract |
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Deletion of the short arm of chromosome 6 is relatively rare, with the characteristic features of craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities. Here author reports a premature girl with bilateral anophthalmia, bilateral hydrocephalus and marked hypotonia, whose chromosome analysis revealed a 46, XX, del(6)(p23) chromosome constitution. |
| Key Words:
Chromosome 6, Terminal deletion |
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