An unusual combination of trisomy 21 and partial trisomy 5q
Journal of Korean Medical Science
; : 373-376, 1992.
Article
em En
| WPRIM
| ID: wpr-224499
Biblioteca responsável:
WPRO
ABSTRACT
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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Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Fenótipo
/
Trissomia
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Anormalidades Múltiplas
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Cromossomos Humanos Par 5
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Síndrome de Down
Limite:
Humans
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Male
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Newborn
Idioma:
En
Revista:
Journal of Korean Medical Science
Ano de publicação:
1992
Tipo de documento:
Article