Table 1 Overlapping deletions

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

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

291845

loss:

6:101962579–102060754

0.1

autism, moderate global developmental delay