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
;
: 713-717, 1992.
Article
in Korean
| WPRIM
| ID: wpr-119667
3.
Korean Journal of Obstetrics and Gynecology
;
: 1605-1612, 1992.
Article
in Korean
| WPRIM
| ID: wpr-145863
ABSTRACT
No abstract available.
Subject(s)
Diagnosis , Hemophilia A , Molecular Biology , Polymorphism, Restriction Fragment Length
4.
Korean Journal of Fertility and Sterility
;
: 223-231, 1991.
Article
in Korean
| WPRIM
| ID: wpr-165258
ABSTRACT
No abstract available.
Subject(s)
Female , Pregnancy , Abortion, Habitual , Cytogenetics , Family Characteristics
5.
Journal of the Korean Pediatric Society
;
: 907-911, 1991.
Article
in Korean
| WPRIM
| ID: wpr-177161
6.
Journal of the Korean Pediatric Society
;
: 164-168, 1981.
Article
in Korean
| WPRIM
| ID: wpr-156353