Table 1 Comparison of the clinical features of patients with interstitial 14q deletions including the segment 14q23.3 to 14q31.1
From: Interstitial 14q24.3 to q31.3 deletion in a 6-year-old boy with a non-specific dysmorphic phenotype
Feature | 1 Le Meur | 2 Zollino, case 25 | 3 Propositus | 4 Karnitis, Byth | 5 Cingöz | 6 Schlade | 7 Zollino 22 | Total |
|---|---|---|---|---|---|---|---|---|
Proximal breakpoint | q23.3 | q24.3 | q24.3 | q24.3 | q24.3 | q24.3 | q24.3 | |
Distal breakpoint | q31.1 | q32.13 | q31.3 | q31.3 | q32.2 | q32.13 | q31.11 | |
Size of the deletion in Mb | 13.937.056 | 20.971.834 | 13.115.851 | 11.665.854 | 21.545.793 | 18.576.858 | 13.981.234 | |
Minimal deletion (base pairs) | 67.736.534 | 73.942.355 | 76.211.806 | 76.822.337 | 77.226.431 | 77.823.431 | 77.867.749 | |
81.673.589 | 94.914.188 | 89.327.656 | 88.488.190 | 98.771.224 | 96.400.270 | 91.848.982 | ||
Technique used | FISH/BACs | FISH/BACs | aCGH | FISH/BACs | FISH/BACs | FISH/BACs | FISH/BACs | |
Age at last examination (years) | 6/12 | 18 | 6 9/12 | 3 6/12 | 10 | 3 | 19 | - |
Developmental delay | + | ++ | + | + | + | + | ++ | 7/7 |
Intellectual impairment | ++ | + | +, mild | + | + | ++ | 7/7 | |
Language delay | + | + | + | + | + | 6/6 | ||
Postnatal growth retardation | + | - | + | + | 4/6 | |||
Muscular hypotonia | + | + | + | + | + | + | 7/7 | |
Microcephaly postnatally | + | - | + | - | ¾ | |||
Ocular hypertelorism | + | + | + | + | 5/5 | |||
Inner epicanthic folds | + | + | + | + | 5/5 | |||
Ptosis of eyelids | + | + | + | 3/6 | ||||
Downslant/palpebral fissures | + | + | + | - | ¾ | |||
Flat/depressed nasal bridge | + | + | + | 3/3 | ||||
Strabismus | + | + | ||||||
Short/bulbous nose | + | + | + | + | + | 5/5 | ||
Deep/broad philtrum | + | + | 2/2 | |||||
Thin vermilion of the upper lip | + | + | + | + | 4/4 | |||
High arched palate | + | + | - | 2/3 | ||||
Abnormal dentition | + | + | - | 2/3 | ||||
Micro-/retrognathia | + | + | - | + | ¾ | |||
Pointed chin | + | + | 2/3 | |||||
Dysplastic/low-set ears | +, asymm. | + | + | + | + | 6/6 | ||
Scoliosis | + | + | ||||||
+ | + | |||||||
Congenital heart defect | + | - | - | - | + | - | - | 3/6 |
Hearing impairment | +(?) | + | + | 4/4 | ||||
Findings in single patients | Radial a/hypoplasia cleft palate, mild ventricular dilatation, maternal balanced insertion | Myopia, aggressivity | Cupid’s bow of upper lip | Breech delivery, central lower incisor, transverse palmar crease left | Blepharo-phimosis, facial asymmetry | Brachyda-ctyly, syndactyly 2/3 toes Seizures, Hirsutism | Susceptible to infections |