Table 1.
Overlapping deletions
| Decipher ID | Variant | Interval (Mb) | Phenotypes |
|---|---|---|---|
| Overlapping deletion Nr. 1 | |||
| Our patient | loss: 6:98693279–100083279 |
1.39 | posterior rotated ears, macrocephaly, autism, intellectual disability, speech impairment, hypertelorism, |
| 264111 | loss: 6:98966910–101858361 |
2.89 | behavioural/psychiatric abnormality, mild intellectual disability, obesity [18] |
| 291784 | loss: 6:96200844–99629252 |
3.43 | abnormality of body height, abnormality of the ear, abnormality of the nasal bridge, behavioural/psychiatric abnormality, cognitive impairment, high forehead, macrocephaly, neurological speech impairment, overgrowth [18] |
|
Variant Call ID
nssv707162 (nsv533449) |
loss: 6:99218523–100260987 |
1.04 | abnormality of the heart global developmental delay |
|
dbVar ID
nsv530906 (Variant Call ID: nssv578123) |
loss: 6:99116405–101714826 |
2.59 | global developmental delay |
| 292356 | loss: 6:98905933–100642867 |
1.37 | development delay, learning disabilities, behavioural disorders, brachycephaly, triangular face shape, unilateral cryptorchism, strabismus [18] |
| 265018 | loss: 6:99218535–100260996 |
1 | neonatal hypotonia, mild motor delay, moderate learning disability, speech delay, very severe obesity (BMI 47), hyperphagia, behavioural problems [14] |
| 273148 | loss: 6:99156238–100644046 |
1.49 | severe intellectual disability, lipoma of the CNS, round face, congenital muscular torticollis, plagiocephaly, thoracolumbar scoliosis |
| Overlapping deletion Nr.2 | |||
| Our patient | loss: 6:102113307–102873307 |
0.7 | posterior rotated ears, macrocephaly, autism, intellectual disability, speech impairment, hypertolerism, |
|
dbVar ID
nsv529294 |
loss: 6:102474505–103122745 |
0.6 | global developmental delay |
| 275474 | loss: 6:100382250–102582366 |
2.2 | perinatal hypotonia, developmental delay, learning disabilities, behavioural disorders, hyperphagia, obesity, synophris, hirsutism, small mouth [18] |
| 284729 | loss: 6:102266317–102931873 |
0.7 | autistic behaviour |
| Flanking deletion Nr. 2 | |||
| 291845 | loss: 6:101962579–102060754 |
0.1 | autism, moderate global developmental delay |
Deletions spanning ≤3.5 Mb with a specified phenotype overlapping or flanking with the deletion in our patient as mentioned in the Decipher (decipher.sanger.ac.uk/browser) and ClinGen (www.clinicalgenome.org/data-sharing/) databases as well as referenced in the medical literature