J Korean Med Sci.  1992 Dec;7(4):373-376. 10.3346/jkms.1992.7.4.373.

An unusual combination of trisomy 21 and partial trisomy 5q

• Kim CJ
• Chi JG
• Lee KH
• Lee CK
• Yoo MS
• Paik YK

• KMID: 1421942
• DOI: http://doi.org/10.3346/jkms.1992.7.4.373

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.

Keyword

Trisomy 21; Partial trisomy 5q; Multiple congenital anomalies

MeSH Terms

Abnormalities, Multiple/*genetics/pathology
*Chromosomes, Human, Pair 5
Down Syndrome/*genetics/pathology
Humans
Infant, Newborn
Male
Phenotype
*Trisomy