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Table 1 Overlapping deletions

From: Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

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
  1. 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