Table 1 Clinical cases of sSMC 17

Chen et al.

17q11.1q11.2 (25,372,965-27,725,134)

in mosaic form; prenatal diagnosis

ventricular septal defect, developmental delay, speech delay with language problems at neonatal follows-up

[15]

Cornelius et al.

17p11.2q11.2 (21,200,000-27,500,000) in mosaic form

22-year-old male with Gilles de la Tourette syndrome, attention deficit hyperactivity disorder (ADHD), intellectual disability and seizures

[11]

Vetro et al.

sSMC(17) involving three duplications separated by two single copy regions with a size of about 2.1 Mb and 615 kb (NCBI 36): 17p11.2 (16,892,427-19,888,467) (2,9 Mb),17q11.1 (22,427,573-23,163,556) (319 kb) and 17q11.2 (23,848,894-25,676,268) (1,8 Mb)in mosaic form

severe global developmental delay, speech delay, hypotonia, microcephaly and mild dysmorphic features

[16]

Kozma et al.

r(17)(::p11.1 → q21::) in mosaic form; no coordinates given

38-year-old male with developmental delay, profound mental retardation, kyphoscoliosis, bilateral cataracts, severe calcaneovalgus deformity of the feet, dysmorphic facies, mitral valve prolapse with regurgitation and severe respiratory insufficiency. He never developed any speech.

[17]

Capovia P. et al.

min(17)(:p11.1/q11.2:) in size of 10 Mb; in mosaic form

2-year-old male with minor facial dysmorphic features, developmental delay (especially speech delay), short stature and Potocki-Lupski syndrome

[18]

Jason Anderson

min (17) (23,086,100-32,754,790 MB)

developmental delay in newborn

[5]

Manolakos et al.

min(17) of three duplications: (p11.2 → p11.2; 16.9-19.89) (p11.1 → q11.1; 22.42-23.16) (q11.2 → q11.2; 23.84-25.67) in non-mosaic form

significantly delayed developmental milestones (sitting unsupported at 12 months, walking unaided at 22 months, started uttering first words at 2.5 years), mild dysmorphic facial and body features (microcephaly, narrow palpebral fissures, small eyes, high-arched palate, low set ears, short hands and fingers and clinodactyly of the 5th finger), severe hypotonia, microcephaly, IQ <46 (at 17 months)

[19]

Neill NJ et al.

mar(17) (:p11.1 → q11.2:) in mosaic form

abnormal

[20]