From: 7q36 deletion and 9p22 duplication: effects of a double imbalance
Case | Present case | Frühmesser et al. 2012[10] | Ponnala and Dalal, 2011[11] | Vorsanova et al. 2008[12] | Ahn et al. 2003[13] | Nowaczyk et al. 2000[14] | Chen et al. 1999[15] | Savage et al. 1997[16] | Hara et al. 1986[19] |
---|---|---|---|---|---|---|---|---|---|
Karyotype | 46,XY, der (7), t(7;9) (q36;p22), 9 ph | 46,XX, der(7), t(7;17) (q36;p13) | 46, XY, der (7), t(7;14), (q33-q32.2) | 45,XX, der(7), t(7;21) (q34;q22.13),-21 | 46,XX, der(7), t(2;7) (q37.3;q34) | 46,XY, der(7), t(2;7) (p23.2;q36.1) | 46,XX, der(7), t(3;7) (p23;q36) | 46,XX, der (7), t(7; 19) (q36.1;q13.43) | 46, XX, der(7), t(5;7) (q31:q22) |
Origin | Paternal | Maternal | Paternal | de novo | Paternal | Paternal | Paternal | Paternal | Uncertain |
Age at diagnosis | 5 months § | 21 years § | 4 years | 2 years § | fetus | fetus § | fetus § | fetus § | 1 year |
Developmental delay | + | + | + | + | + | ||||
Mental retardation | + | + | + | ||||||
Hypotelorism | + | ||||||||
Microftalmia | + | ||||||||
Microcephaly | + | + | + | + | |||||
Up slanting palpebral fissures | + | + | + | ||||||
Malformed ears | + | + | + | + | |||||
Broad/bulbous nasal tip | + | + | + | + | |||||
Arrhinencephaly | + | ||||||||
Cleft lip | + | ||||||||
Cleft palate | + | ||||||||
Nail hypoplasia | + | ||||||||
Hallux vagus | + | ||||||||
Overlapping toes/fingers | + | + | |||||||
Fingers malformations | + | + | + | ||||||
Multiple skeletal abnormalities | + | + | |||||||
Sacral agenesis | + | + | |||||||
Urogenitally abnormalities | + | + | |||||||
Epileptic seizures | + | ||||||||
HPE | + | + | |||||||
Hypoplasia of the corpus callosum | + | + | |||||||
Ciclopia | + | ||||||||
Muscular Hypotonia | + | + | + | + | |||||
Cardiac defetcts | + | ||||||||
Maternal age at conception | 31 | 30 | not informed | 24 | 43 | not informed | 26 | 29 | 35 |