| GM08210 |
Facial asymmetry; prominent forehead; high arched palate; elevated nasal bridge; micrognathia; ulnar deviation of 2nd & 3rd fingers bilaterally |
Growth, motor, and mental retardation |
| |
45,XX,der(4)(4qter>4p16.3::21q11.2>21qter),-21 |
|
| GM06918 |
Multiple skeletal abnormalities; short stature; widow′s peak; downward slanting palpebral fissures; high arched palate; micrognathia |
Developmental delay; mental retardation |
| |
46,XY,del(21)(pter>q11.2::q22.1>qter) .ish del(21)(wcp21+),15p+.ish 15p+ (wcp21-) |
|
| GM00137 |
Multiple |
Severe |
| |
45,XY,der(4)t(4;21)(4qter>4p16::21q21>21qter),-21 |
|
| GM06136 |
Bilateral cleft lip and palate; absent patellae; severe calcaneo valgus and metatarsus abductus |
No data |
| |
46,XY,der(21)t(10;21)(21pter> 21q22.3::10p11.2>10pter)mat |
|
| GM00983 |
No data |
No data |
| |
46,XY,der(21)(21pter> 21q22::10q24>10qter)mat |
|
| GM19999 |
Congenital heart defects including ventricular septal defect and patent ductus arteriosus; microphthalmia; corneal clouding; dysplastic hips; intrauterine growth retardation. |
|
| |
46,XX,del(21)(pter>q22.2:) .ish del(21)(wcp21+,D21S1575−) |
|
| GM09868 |
Developmental delay; feeding difficulties; increased tone; prominent nasal bridge; large nose/blunt tip; downslanting eyes; low-set, posteriorly rotated ears; increased facial hair; pectus deformity of chest; slight kyphosis; brisk deep tendon reflexes and occasional clonus |
Developmental delay |
| |
46,XX,rec(21)(pter> p13::q22.1>pter) |
|
