Table 1 Summary of the clinical findings in the reported patients with overlapping 10q21.3q22 deletions
Tzschach et al. 2011 Patient 1 [8] | Tzschach et al. 2011 Patient 2 [8] | Tzschach et al. 2011 Patient 3 [8] | Reddy et al. 2011 Case 1 [5] | Lei et al. 2016 [3] | Gannon et al. 2015 (DECIPHER: 258813) [2] | Shimojima et al. 2017 [6] | Preiksaitiene et al. 2017 [4] | Current Patient | Bartnik et al. 2014 Patient 50 [9] | |
|---|---|---|---|---|---|---|---|---|---|---|
Karyotype | 46,XX,del(10)(q21.3q22.2) | 46,XX,del(10)(q22.2q22.3) | 46,XX,del(10)(q22.2q22.3) | 46,XX,del(10)(q22.1q22.2) | 46,XX | 46,XY | 46,XX | NA | NA | NA |
Deleted region [GRCh37] | chr10:69659286–77,597,174 | chr10:75527732–78,793,670 | chr10:75379383–79,041,376 | chr10:74445789–77,407,019 | chr10:76652946–78,419,911 | chr10:75971593–78,526,861 | chr10:64892035–75,320,005 | chr10:74236933–79,422,266 | chr10:68735254–78,885,714 | chr10:69295658–70,664,371 |
Size of deletion | 7.9 Mb | 3.2 Mb | 3.6 Mb | 2.96 Mb | 1.77 Mb | 2.5 Mb | 10.4 Mb | 5.2 Mb | 10.2 Mb | 1.36 Mb |
Protein coding genes | 88 | 19 | 23 | 35 | 8 | 9 | 73 | 37 | 92 | 15 |
Age at examination | 3 Years 9 months | 4 Years 6 months | 2 Years 6 months | 3 Years | 2 Years 6 months | 11 Years | 3 Years | 4 Years | 2 Years 6 months | 14 Years |
Sex | Female | Male | Female | Female | Female | Male | Female | Female | Female | Male |
Delayed Psychomotor development | + | + | + | + | + | UK | + | + | + | + |
Speech Delay | + | + | + | + | + | + | + | + | + | UK |
Growth Deficiency | + | – | + | + | + | UK | + | – | + | + |
Feeding difficulties | + | – | – | – | + | UK | + | + | + | + |
Muscular Hypotonia | + | – | + | – | + | + | + | + | + | |
OFC | 25-50th Centile | 75-90th Centile | 10th Centile | 75-90th Centile | 10-50th Centile | Macrocephaly | −2.0 SD | 75th Centile | 65th Centile | 10–25 Centile (at birth) |
Ocular | Hypertelorism | Hypertelorism | Hypertelorism, strabismus, telecanthus, epicanthic inversus, ptosis | Telecanthus | – | Telecanthus, blepharophimosis, short palpebral fissures and prominent epicanthic folds | Hypertelorism, downslanting palpebral fissures, and epicanthal folds | Bilateral bepharophimosis, telecanthus, epicanthic inversus, ptosis, | Telecanthus | Strabismus, nystagmus |
Ears | Low set, posteriorly rotated | Low set | – | Small, slightly low set, posteriorly rotated depressor | – | Small ears | Low set | Small ears | Small, posteriorly rotated | UK |
Mouth | Dental lamina cysts | Small mouth | Small mouth, oral asymmetry, high-arched palate | Cleft Palate | Normal Palate | UK | Small mouth, long philtrum, | Tented upper lip, thin vermillion, smooth philtrum, high-arched and narrow palate, bifid uvula | High palate, short philtrum, | |
Retrognathia | + | + | – | ‘Small chin’ | – | UK | UK | – | + | UK |
Digital findings | Long and lean thumbs | Fifth finger clinodactyly | – | – | UK | UK | Fifth finger clinodactyly | Fifth finger clinodactyly, Long slender fingers | Brachydactyly | |
Genital Anomalies | – | – | Small labia minora | Hypoplastic external genitalia | UK | UK | – | – | UK | |
MRI findings | Delayed myelination | – | – | – | Mild frontal atrophy | UK | Mild internal hydrocephalus; arachnoidal cyst | Small optic nerves, delayed myelination of the optic radiations | Focal perinatal ischaemic/an-oxemic hypomyelination changes | |
Other | Unilateral deafness, gastroesophageal reflux, long and lean thumbs | Brachycephaly | Hypoplasia of the midface | IUGR, Facial Palsy | Mild hearing impairment, feeding difficulties | IUGR | Tetrology of Fallot, atresia of the pulmonary artery, PDA, and atrial septal defect; flat nasal bridge; small hands and feet, webbed neck, low hairline, | “Mask like face”, ventricular septal defect, hoarse voice | Scaphocephaly depressed nasal ridge | Congenital heart defect (VSD and PDA), Hirschsprung disease, wide nasal bridge, large nose with bulbous tip, malocclusion |