An unusual combination of trisomy 21 and partial trisomy 5q
Journal of Korean Medical Science
;
: 373-376, 1992.
Artículo
en Inglés
| WPRIM
| ID: wpr-224499
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Fenotipo
/
Trisomía
/
Anomalías Múltiples
/
Cromosomas Humanos Par 5
/
Síndrome de Down
Límite:
Humanos
/
Masculino
/
Recién Nacido
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
1992
Tipo del documento:
Artículo
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