Deletion 22q11
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 12/24 |
| Female | 50.0% | 12/24 |
| Indifferent | 0% | 0/24 |
| Unknown | 0% | 0/24 |
| General | ||
| Birth Length abnormalities | 0% | 0/5 |
| Birth Weight abnormalities | 0% | 0/6 |
| Birth Head circumference abnormalities | 0% | 0/2 |
| Current Height abnormalities | 28.6% | 4/14 |
| < P3 : Short stature | 28.6% | 4/14 |
| Current Weight abnormalities | 33.3% | 1/3 |
| < P3 : Decreased body weight | 33.3% | 1/3 |
| Current Head circumference abnormalities | 40.0% | 2/5 |
| < P3 : Microcephaly | 40.0% | 2/5 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 12/24 |
| Generalized hypotonia | 37.5% | 9/24 |
| Global developmental delay | 8.3% | 2/24 |
| Clumsiness | 4.2% | 1/24 |
| Febrile seizure (within the age range of 3 months to 6 years) | 4.2% | 1/24 |
| Neonatal hypotonia | 4.2% | 1/24 |
| Behavioral problems | 20.8% | 5/24 |
| Anxiety | 12.5% | 3/24 |
| Atypical behavior | 4.2% | 1/24 |
| Excessive shyness | 4.2% | 1/24 |
| Hyperactivity | 4.2% | 1/24 |
| Facial abnormalities | ||
| Abnormality of the ear | 76.2% | 16/21 |
| Posteriorly rotated ears | 14.3% | 3/21 |
| Aplasia/Hypoplasia of the ear | 9.5% | 2/21 |
| Protruding ear | 9.5% | 2/21 |
| Absent earlobe | 4.8% | 1/21 |
| Low-set ears | 4.8% | 1/21 |
| Macrotia | 4.8% | 1/21 |
| obsolete Low-set, posteriorly rotated ears | 4.8% | 1/21 |
| Overfolded helix | 4.8% | 1/21 |
| Preauricular skin tag | 4.8% | 1/21 |
| Stenosis of the external auditory canal | 4.8% | 1/21 |
| Abnormality of the eye | 68.2% | 15/22 |
| Almond-shaped palpebral fissure | 22.7% | 5/22 |
| Hypertelorism | 22.7% | 5/22 |
| Downslanted palpebral fissures | 13.6% | 3/22 |
| Strabismus | 13.6% | 3/22 |
| Ptosis | 9.1% | 2/22 |
| Upslanted palpebral fissure | 9.1% | 2/22 |
| Abnormal eyelid morphology | 4.5% | 1/22 |
| Abnormal lacrimal duct morphology | 4.5% | 1/22 |
| Abnormal nasolacrimal system morphology | 4.5% | 1/22 |
| Epicanthus | 4.5% | 1/22 |
| Hypoplasia of the iris | 4.5% | 1/22 |
| Hypoplasia of eyelid | 4.5% | 1/22 |
| Iris coloboma | 4.5% | 1/22 |
| Long eyelashes | 4.5% | 1/22 |
| obsolete Prominent epicanthal folds | 4.5% | 1/22 |
| Abnormality of the nose | 81.0% | 17/21 |
| Prominent nasal bridge | 28.6% | 6/21 |
| Abnormal morphology of the nasal alae | 23.8% | 5/21 |
| Long nose | 23.8% | 5/21 |
| Prominent nose | 19.0% | 4/21 |
| Underdeveloped nasal alae | 19.0% | 4/21 |
| Wide nasal bridge | 19.0% | 4/21 |
| Narrow nose | 14.3% | 3/21 |
| Prominent nasal tip | 14.3% | 3/21 |
| Abnormal nasal tip morphology | 9.5% | 2/21 |
| Wide nasal base | 9.5% | 2/21 |
| Abnormal external nose morphology | 4.8% | 1/21 |
| Bilateral choanal atresia | 4.8% | 1/21 |
| Pear-shaped nose | 4.8% | 1/21 |
| Thick nasal alae | 4.8% | 1/21 |
| Abnormality of the mouth | 90.9% | 20/22 |
| Cleft palate | 40.9% | 9/22 |
| Velopharyngeal insufficiency | 36.4% | 8/22 |
| High palate | 13.6% | 3/22 |
| Thin upper lip vermilion | 13.6% | 3/22 |
| Long philtrum | 9.1% | 2/22 |
| Narrow mouth | 9.1% | 2/22 |
| Bifid uvula | 4.5% | 1/22 |
| Broad alveolar ridges | 4.5% | 1/22 |
| Deep philtrum | 4.5% | 1/22 |
| High, narrow palate | 4.5% | 1/22 |
| Hypoplastic philtrum | 4.5% | 1/22 |
| Open mouth | 4.5% | 1/22 |
| Short upper lip | 4.5% | 1/22 |
| Short philtrum | 4.5% | 1/22 |
| Smooth philtrum | 4.5% | 1/22 |
| Submucous cleft soft palate | 4.5% | 1/22 |
| Visual and hearing impairments | ||
| Abnormal hearing | 8.7% | 2/23 |
| Conductive hearing impairment | 4.3% | 1/23 |
| Mild hearing impairment | 4.3% | 1/23 |
| Abnormal vision | 21.7% | 5/23 |
| Hypermetropia | 8.7% | 2/23 |
| Myopia | 4.3% | 1/23 |
| Visual impairment | 4.3% | 1/23 |
| Heart | ||
| Abnormality of the heart | 50.0% | 12/24 |
| Ventricular septal defect | 25.0% | 6/24 |
| Atrial septal defect | 8.3% | 2/24 |
| Patent ductus arteriosus | 8.3% | 2/24 |
| Tetralogy of Fallot | 8.3% | 2/24 |
| Abnormal aortic morphology | 4.2% | 1/24 |
| Interrupted aortic arch type B | 4.2% | 1/24 |
| Interrupted aortic arch | 4.2% | 1/24 |
| Left-to-right shunt | 4.2% | 1/24 |
| Mitral regurgitation | 4.2% | 1/24 |
| Muscular ventricular septal defect | 4.2% | 1/24 |
| Patent ductus arteriosus after birth at term | 4.2% | 1/24 |
| Patent foramen ovale | 4.2% | 1/24 |
| Perimembranous ventricular septal defect | 4.2% | 1/24 |
| Peripheral pulmonary artery stenosis | 4.2% | 1/24 |
| Pulmonic stenosis | 4.2% | 1/24 |
| Pulmonary arterial hypertension | 4.2% | 1/24 |
| Right aortic arch | 4.2% | 1/24 |
| Secundum atrial septal defect | 4.2% | 1/24 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 20.8% | 5/24 |
| Feeding difficulties | 8.3% | 2/24 |
| Inguinal hernia | 8.3% | 2/24 |
| Nasal regurgitation | 8.3% | 2/24 |
| Umbilical hernia | 4.2% | 1/24 |
| Urogenital | ||
| Abnormality of the urogenital system | 8.3% | 2/24 |
| Cryptorchidism | 4.2% | 1/24 |
| Ectopic kidney | 4.2% | 1/24 |
| Skeleton | ||
| Skeletal abnormalities | 58.3% | 14/24 |
| Micrognathia | 20.8% | 5/24 |
| Hypoplasia of the maxilla | 12.5% | 3/24 |
| Long fingers | 12.5% | 3/24 |
| Retrognathia | 12.5% | 3/24 |
| Abnormal skull morphology | 8.3% | 2/24 |
| Abnormality of the skeletal system | 8.3% | 2/24 |
| Malar flattening | 8.3% | 2/24 |
| Talipes equinovarus | 8.3% | 2/24 |
| Abnormal distal phalanx morphology of finger | 4.2% | 1/24 |
| Abnormality of the hand | 4.2% | 1/24 |
| Dolichocephaly | 4.2% | 1/24 |
| Long foot | 4.2% | 1/24 |
| Narrow palm | 4.2% | 1/24 |
| Overlapping toe | 4.2% | 1/24 |
| Scoliosis | 4.2% | 1/24 |
| Slender finger | 4.2% | 1/24 |
| Small anterior fontanelle | 4.2% | 1/24 |
| Small hand | 4.2% | 1/24 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 6/24 |
| Carious teeth | 12.5% | 3/24 |
| Abnormality of the scalp hair | 4.2% | 1/24 |
| Bilateral single transverse palmar creases | 4.2% | 1/24 |
| Cyanosis | 4.2% | 1/24 |
| Hyperhidrosis | 4.2% | 1/24 |
| Hypertrichosis | 4.2% | 1/24 |
| Sacral dimple | 4.2% | 1/24 |
| Synophrys | 4.2% | 1/24 |
| Tooth malposition | 4.2% | 1/24 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 12.5% | 3/24 |
| Aplasia of the thymus | 4.2% | 1/24 |
| Hypoparathyroidism | 4.2% | 1/24 |
| Hypothyroidism | 4.2% | 1/24 |
| Abnormality of the metabolic system | 20.8% | 5/24 |
| Hypocalcemia | 20.8% | 5/24 |
| Abnormality of the immune system | 45.8% | 11/24 |
| Recurrent infections | 20.8% | 5/24 |
| Abnormal total T cell count | 8.3% | 2/24 |
| Recurrent respiratory infections | 8.3% | 2/24 |
| Decreased CD8+ T cell proportion | 4.2% | 1/24 |