Table 1. Phenotypic description and cytogenetic status of cases of trisomy 8 in mosaic reported in the literature compared with the patient reported here.
Reference | 1 | 4 | 4 | 4 | 4 | 10 | 11 | 12 | 12 | 13 | 14 | 15 | 16 | Our patient |
Case | 1 | 2 | 3 | 4 | 1 | 2 | ||||||||
Alterations | ||||||||||||||
Prominent forehead | - | - | - | + | - | + | + | + | + | + | - | - | - | - |
Broad nose | - | + | + | + | + | + | - | + | - | + | + | - | - | - |
Alterations in PA | - | + | + | + | + | + | - | + | - | - | + | - | - | - |
Sunken eyes | - | + | + | - | + | + | - | - | + | - | - | - | - | - |
Everted/thick lips | + | + | + | + | - | + | + | + | - | + | - | - | - | - |
Arched palate | - | - | + | - | + | + | + | - | - | + | - | - | + | + |
Palate fissure | - | - | - | + | - | - | + | - | - | - | + | - | - | - |
Short neck | - | + | + | - | - | - | - | + | - | - | - | - | - | - |
Campodactyly of fingers | + | + | + | - | - | + | - | + | - | - | - | + | - | + |
Deep furrows in palms or soles of feet | + | + | + | + | + | + | + | - | + | + | - | + | - | + |
Alterations in extremities | + | + | + | + | + | + | + | + | + | + | + | + | - | + |
Pectus excavatum (hollowed chest) | - | + | - | - | - | - | - | - | + | - | - | - | - | - |
Vertebral anomalies | - | - | - | - | - | - | + | - | + | - | - | - | + | + |
Congenital cardiopathy | - | - | - | - | + | - | - | + | - | - | - | + | - | - |
Urogenital anomalies | + | - | + | - | - | - | + | + | - | + | - | + | + | - |
Global retardation of development | + | + | + | + | - | + | + | + | - | + | - | - | + | + |
Skin anomalies | - | - | - | - | - | - | + | - | - | - | + | - | - | + |
Karyotype | mos47,XY,+8[7[/46,XY[43[ | mos47,XY,+8[28[/ 46,XY[2[ | mos47,XY,+8[3[/46.XY[27[ | mos47,XY,+8 [18[/46,XY [89[ | mos47,XY,+8[40[/46.XY[60[ | mos47,XY,+8[15[/46.XY[15[ | mos47,XY,+8[90[/46.XY[10[ | mos47,XY,+8[74[/46,XY[26[ | mos47,XX,+8[94[/46,XX[6[ | mos47,XY,+8[21[/46,XY[24[ | mos47,XX,8[17[/46,XX[83[ | mos47,XY,+8[29[/46,XY[21[ | mos46,XY/47,XY,(+8)(8p21.2→8q12.1) | mos47,XY,+8[7[/46,XY[93[ |