An unusual combination of trisomy 21 and partial trisomy 5q.
10.3346/jkms.1992.7.4.373
- Author:
Chong Jai KIM
1
;
Je Geun CHI
;
Kyu Hyung LEE
;
Chun Kun LEE
;
Myung Su YOO
;
Yong Kyun PAIK
Author Information
1. Department of Pathology, Seoul National University College of Medicine, Korea.
- Publication Type:Case Reports ; Review
- Keywords:
Trisomy 21;
Partial trisomy 5q;
Multiple congenital anomalies
- MeSH:
Abnormalities, Multiple/*genetics/pathology;
*Chromosomes, Human, Pair 5;
Down Syndrome/*genetics/pathology;
Humans;
Infant, Newborn;
Male;
Phenotype;
*Trisomy
- From:Journal of Korean Medical Science
1992;7(4):373-376
- CountryRepublic of Korea
- Language:English
-
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.
