An unusual combination of trisomy 21 and partial trisomy 5q.

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 defec...

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Detalles Bibliográficos
Autores principales: Kim, C. J., Chi, J. G., Lee, K. H., Lee, C. K., Yoo, M. S., Paik, Y. K.
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 1992
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053829/
https://www.ncbi.nlm.nih.gov/pubmed/1299243
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author Kim, C. J.
Chi, J. G.
Lee, K. H.
Lee, C. K.
Yoo, M. S.
Paik, Y. K.
author_facet Kim, C. J.
Chi, J. G.
Lee, K. H.
Lee, C. K.
Yoo, M. S.
Paik, Y. K.
author_sort Kim, C. J.
collection PubMed
description 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.
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spelling pubmed-30538292011-03-16 An unusual combination of trisomy 21 and partial trisomy 5q. Kim, C. J. Chi, J. G. Lee, K. H. Lee, C. K. Yoo, M. S. Paik, Y. K. J Korean Med Sci Research Article 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. Korean Academy of Medical Sciences 1992-12 /pmc/articles/PMC3053829/ /pubmed/1299243 Text en
spellingShingle Research Article
Kim, C. J.
Chi, J. G.
Lee, K. H.
Lee, C. K.
Yoo, M. S.
Paik, Y. K.
An unusual combination of trisomy 21 and partial trisomy 5q.
title An unusual combination of trisomy 21 and partial trisomy 5q.
title_full An unusual combination of trisomy 21 and partial trisomy 5q.
title_fullStr An unusual combination of trisomy 21 and partial trisomy 5q.
title_full_unstemmed An unusual combination of trisomy 21 and partial trisomy 5q.
title_short An unusual combination of trisomy 21 and partial trisomy 5q.
title_sort unusual combination of trisomy 21 and partial trisomy 5q.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3053829/
https://www.ncbi.nlm.nih.gov/pubmed/1299243
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