Table 1 Clinical features of patients with 6p deletions and duplications
Basic information | III 3 | II 4 | Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | Patient 6 | Patient 7 |
|---|---|---|---|---|---|---|---|---|---|
CNV sizes | |||||||||
Duplication region (hg38) | chr6:820,000–21,699,769 | chr6:820,000–21,679,769 | chr6:5,159,762–6,167,183 | chr6:430,814–6,799,957 | chr6:2,331,912–3,032,514 | chr6:17,556,755–17,873,607 | chr6:13,919,131–15,987,662 | chr6:15,181,642–15,490,178 | 6p24.3-6p24.1 |
Duplication size (Mb) | 20.879 | 20.86 | 1.007 | 6.369 | 0.701 | 316.85 kb | 2.07 Mb | 308.54 kb | 5.8 |
Deletion region (hg38) | chr6:160,000–820,000 | chr6:160,000–820,000 | chr6:335,924–5,113,947 | chr6:182,176–404,928 | chr6:1–2,113,525 | − | − | − | 6pter-6p24.3 |
Deletion size (Mb) | 0.66 | 0.66 | 4.778 | 0.222 | 2.114 | − | − | − | 8.1 |
Sex | Male | Female | Female | Female | Male | Female | Female | Male | Femle |
Age at consultation | 1y5m | 26y | 1y1m | New born | 4 m | New born | |||
Age at last follow up | 1y9m | 26y | 12y | 10y5m | 27y | 16y | Less than 1 year | 11y | NA |
Craniofacial features | |||||||||
Frontal bossing/high forehead | + | − | + | ND | ND | ND | ND | ND | + |
Midface retrusion/flat midface | − | − | + | ND | + | ND | ND | ND | + |
Hypertelorism/telecanthus | − | − | + | ND | + | + | ND | ND | + |
Arched eyebrows | − | − | ND | + | ND | ND | ND | ND | ND |
Blepharoptosis | + | − | ND | + | ND | ND | ND | ND | ND |
Downslanted palpebral fissures | − | − | ND | ND | ND | ND | ND | ND | + |
Sunken eyeballs | + | − | ND | ND | ND | ND | ND | + | ND |
External ear anomalies/low-set | + | + | − | ND | ND | ND | ND | ND | + |
Wide/depressed nasal bridge | + | − | + | ND | ND | ND | ND | ND | ND |
Long/short philtrum | + | + | − | + | ND | + | ND | ND | ND |
Smooth/flat philtrum | − | − | ND | + | ND | ND | ND | ND | + |
Short/small nose | − | − | ND | + | + | ND | ND | ND | ND |
Nasal bone dysplasia | + | − | ND | ND | ND | ND | ND | ND | ND |
Flat nose bridge | + | − | ND | + | ND | ND | ND | ND | ND |
Thin upper lip | + | + | ND | + | ND | ND | ND | ND | ND |
Small mouth | − | − | ND | + | ND | ND | ND | ND | ND |
High/cleft palate | − | − | + | ND | + | ND | ND | ND | ND |
Cognitive development | |||||||||
Development delay | + | + | + | + | + | ND | ND | + | + |
Intellectual disability | + | + | + | + | + | ND | ND | + | + |
Language impairment | + | + | + | + | + | ND | ND | + | + |
Hypotonia | + | − | − | + | ND | + | ND | ND | ND |
Hearing Loss | + | + | + | ND | ND | ND | ND | ND | + |
Heart defect | − | ND | − | + | + | ND | ND | ND | − |
Structural eye abnormality | |||||||||
Glaucoma | − | − | − | + | − | − | ND | ND | ND |
Refractive error | − | − | + | − | − | − | ND | ND | ND |
Strabismus | − | − | − | − | − | + | ND | ND | + |
Corectopia | − | − | + | − | − | − | ND | ND | ND |
Far-sightedness | − | − | + | + | − | − | ND | ND | + |
Congenital choroidal defect | + | − | − | − | − | − | ND | ND | ND |
Corneal opacity | − | − | − | − | + | − | ND | ND | ND |
Brain abnormalities | |||||||||
Encephalatrophy | − | − | ND | ND | + | ND | ND | ND | ND |
Skull shape abnormal | − | − | ND | ND | ND | ND | ND | ND | ND |
White matter abnormalities | − | − | + | ND | + | ND | ND | ND | ND |
Lateral ventricle enlargement | − | − | ND | ND | ND | ND | ND | ND | + |
Cerebrospinal fluid fistula | − | − | + | ND | ND | ND | ND | ND | ND |
Skeletal anomalies | |||||||||
Slender long bones and tall | − | − | + | ND | ND | ND | ND | ND | ND |
Foreshortened vertebral bodies | − | − | ND | ND | ND | ND | ND | ND | ND |
Epiphyseal dysplasia | − | − | + | ND | ND | ND | ND | ND | ND |
Hip dysplasia | − | − | − | ND | ND | ND | ND | ND | ND |
Hand anomaly | − | + | + | ND | ND | ND | + | ND | ND |
Foot anomaly | − | − | + | + | ND | ND | ND | ND | + |
Dental abnormalities | − | − | − | ND | ND | ND | ND | ND | ND |
Scoliosis | − | − | ND | ND | + | ND | ND | ND | ND |
Others | |||||||||
Nephrotic syndrome | − | − | ND | + | ND | ND | ND | ND | ND |
Short stature | + | + | ND | ND | + | ND | ND | ND | ND |
Imperforate anus | + | − | ND | ND | ND | ND | ND | ND | ND |
Epilepsy | − | − | ND | ND | + | ND | ND | ND | + |
Hamartoma | − | + | ND | ND | ND | ND | ND | ND | ND |
Recurrent respiratory system Infection | + | ND | ND | ND | ND | ND | ND | ND |