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Table 1 Summary of the clinical findings in the reported patients with overlapping 10q21.3q22 deletions

From: Clinical and molecular cytogenetic characterization of a novel 10q interstitial deletion: a case report and review of the literature

  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
  1. UK: Unknown; −: Absent; +: Present; IUGR: Intrauterine growth restriction; SD: standard deviations; PDA: Patent ductus arteriosus; VSD: Ventricular Septal Defect; MRI: Magnetic resonance imaging; OFC: Occipitofrontal Circumference