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KMID : 0191119920070040373
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Journal of Korean Medical Science
1992 Volume.7 No. 4 p.373 ~ p.376
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An unusual combination of trisomy 21 and partial trisomy 5q
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Kim CJ
Chi JG/Lee KH/Lee CK/Yoo MS/Paik YK
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Abstract
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The authors describe a male newborn with multiple congenital anomalies; craniofacial
dysmorphism, bilateral cleft palate and lip, ambiguous external genitalia with absence of
phallus, ventricular septal defect, agenesis of olfactory bulbs, and presence of small round cells simulating migration defect in the cerebellar white matter. Cytogenetic study
demonstrated a chromosomal constitution of 47,XY, +21, +5q. Its pathological significance
compared with Down´s syndrome and hitherto reported partial trisomy 5q is discussed. Publication Types: Review Review of reported cases.
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