|
|
This paper presents clinical manifestations and result of cytogenetic examination of a patient with trisomy 8 mosaicism syndrome.
Characteristic features include hypertelolism, deep set eyes, anteverted nose, narrow pelves, hypospadia, camptodactyly and deep skin crease and furrows.
Karyotyping and chromosomal analysis revealed 47 XY, + 8 mosaicism. A brief review of literature was presented. |
