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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