Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add filters








Year range
1.
Journal of Korean Medical Science ; : 373-376, 1992.
Article in English | 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.


Subject(s)
Humans , Infant, Newborn , Male , Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 5 , Down Syndrome/genetics , Phenotype , Trisomy
2.
Journal of the Korean Pediatric Society ; : 1117-1121, 1990.
Article in Korean | WPRIM | ID: wpr-218933

ABSTRACT

No abstract available.


Subject(s)
Trisomy
SELECTION OF CITATIONS
SEARCH DETAIL