Table 1 Phenotypical comparison of our patient and reported patients with 1q41q42 microdeletion syndrome
From: Psychomotor retardation with a 1q42.11–q42.12 deletion
Patient/source | Our patient | Rice et al., 2006 [41] | Mazzeu et al.,2010 [42] | Jun et. al.,2013 [43] | Filges et al., 2010 [20] | Decipher 1015 | Decipher 266948 | Decipher 300673 |
|---|---|---|---|---|---|---|---|---|
Coordinatea (chr1:) | 224086911-226016203 | 219978228-225359888 | 219894313-229156924 | 223104211-223287570 | 221885000-227340000 | 220916999-226162869 | 222694079-227147000 | 222821378-226677842 |
Deletion size | 1.9 Mb | 5.4 Mb | 1 Mb | 183 Kb | 5.45 Mb | 5.25 Mb | 4.45 Mb | 3.86 Mb |
Inheritance/origin | de novo | unknown | De novo | de novo | de novo | de novo | de novo | unknown |
Brain Defect | - | + | + | + | + | NR | NR | NR |
Cleft Palate | - | + | + | - | + | + | + | + |
Hypotonia | - | + | NR | + | - | NR | + | NR |
Heart Defect | - | - | + | - | - | + | - | - |
Congenital Diaphragmatic Hernia | - | - | - | - | - | + | - | - |
Seizures | + | + | - | + | + | - | - | - |
Psychomotor Retardation | + | - | - | - | - | - | - | - |
Number of Involved Genesb | 13 | >50 | >20 | 2 | >50 | >40 | >60 | >50 |