Table 1 18p deletion: familial transmission cases.
Author | Family member | Chromosomal anomaly | Mental retardation | Short Stature | Dysmorphic features | Notes |
|---|---|---|---|---|---|---|
Uchida[9] | Mother | del(18p) | +/- | + | + | 88% mosaicism |
Son | del(18p) | + | + | + | DQ = 65–70 | |
Daughter | del(18p) | ? | ? | ? | Stillborn, cebocephalia | |
Velagaleti[10] | Mother | del(18p11.2) | + | + | - | |
Daughter | del(18p11.2) | + | + | + | IQ = 69 | |
Tonk[20] | Mother | del(18p11.2) | + | - | + | Mild MR |
Fetus | del(18p11.2) | ? | ? | ? | Cyclopia, holoprosencephaly | |
Tsukahara[11] | Mother | del(18p11.2) | +/- | - | + | |
Daughter | del(18p11.23) | +/- | - | + | DQ = 74 | |
Son | del(18p11.2) | +/- | - | + | 11 months | |
Rigola[18] | Mother | del(18p11.3) | + | - | + | |
Fetus | del(18p), t(X, Y) | ? | ? | ? | No anomalies at autopsy | |
This report | Mother | del(18p11.2) | + | - | + | IQ = 43 |
Proband | del(18p11.2) | + | + | + | Moderate MR | |
Daughter | del(18p11.2) | +/- | - | + | Borderline to mild MR |