Table 1 Nine previous cases and our case with monosomy 18p with an 18;21 translocation.
From: Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly
| Â | Our case | Case 1 | Case 2 | Case 3 | Case 4 | Case 5 | Cace 6 | Case 7 | Case 8 | Case 9 |
|---|---|---|---|---|---|---|---|---|---|---|
Karyotype | 45,XY,der(18) t(18;21)(p11.2;q21.3),-21 | 45,XY-18,-21,+der(18) | 45,XY,-18,-21, +der(18)t(18;21) (p11.1;q11) | 45,XY,-18,-21, +der(18)t(18;21)(p11.23;q11.2) | 46,XX,-18,+ der(18)t(18;21) (p11.1;p11.1) | 45,XY,dic(18;21) (q10;q10) | 45,XY,dic(18;21)(q10;q10)/46,XY,del(18)(p11.1),del(21)(p11.1) | 46,XY,der(18)t(18;21)(p11.2;q22.3) | 45,XY,der(18)t(18;21)(p11.2;q22.1),-21 | 45,XX,-18,-21,t(18;21) (q11.1; q11.1) |
Inheritance | Paternal | De novo | Maternal | De novo | Maternal | De novo | De novo | Maternal | De novo | De novo |
Disjunction | 3:1 segregation | 3:1 segregation | 3:1 segregation | 3:1 segregation | Adjacent-1 | 3:1 segregation | 3:1 segregation | Adjacent-1 | 3:1 segregation | 3:1 segregation |
HPE | + | − | − | − | − | + | + | + | −, polymicrogyria | + |
Intellectual disability | + | −, IQ 80 | + | −a | + | NA | NA | NA | NA | NA |
Hypotelorism/hypertelorism | Hypertelorism | Hypertelorism | NA | − | NA | NA | Hypotelorism | Hypotelorism | − | − |
Cleft lip and/or palate | + | − | NA | − | NA | NA | + | + | − | − |
Others | Hypopituitarism | Â | Â | Hypopituitarism | Schizophrenia | Â | Â | Â | Left hemi syndrome | Arrhinia, cyclopia |
Follow up | 8 years | 10 years | 8 months | 3 years | 43 years | Termination of pregnancy | 17 days | Termination of pregnancy | 11 months | Termination of pregnancy |
Reference | Â | Friedrich et al. (1982)10 | Tharapel et al. (1991)11 | Artman et al. (1992)12 | Smith et al. (1996)16 | Wang et al. (1997)13 | Wang et al. (1997)13 | Chen et al. (2001)17 | Alkan et al. (2002)14 | Goldstein et al. (2003)15 |
