Table 1.
Clinical Characterization of Eight Patients with Increased Dosage of 22q11.2[Note]
|
Finding for Patient |
|||||||||
| Feature | 1 | 2 | 3 | 4 | 4M | 5 | 6 | 7 | Results(No. Affected/No. Tested)of Ensenaueret al. (2003) |
| 22q11.2 copy number | 3 | 3 | 3 | 4 | 3 | 3 | 3 | 3 | |
| Age at last evaluation | 8 years | 4 years | 1 mo | 8 years | 4 mo | 3 years | 34 years | ||
| Sex | M | F | M | F | F | F | F | F | |
| Heart defect | − | − | +a | − | +b | − | − | 2c,d/6 | |
| Velopharyngeal insufficiency | − | + | − | − | − | 5/5 | |||
| Palatal defect | A | − | − | − | − | 4/7 | |||
| Hearing impairment | +e | − | − | +e | + | +f | − | 4/6 | |
| Failure to thrive | − | + | − | − | + | + | − | ||
| Sleep apnea | + | − | − | ||||||
| Absent thymus/asplenia | − | − | − | − | − | − | 1/6 | ||
| Urogenital abnormality | − | − | − | − | − | − | 2/5 | ||
| Hypotonia | − | + | − | − | + | + | − | 1/5 | |
| Gastrointestinal abnormality | − | − | − | − | + | − | |||
| Cognitive deficits | +g,h | +g,h | +g,i | +h | +i | 5/5 | |||
| Behavioral problems | +j | +k | − | +l | 3/3 | ||||
| Seizures | + | + | − | + | 1/6 | ||||
| Dysmorphic features: | 6/6 | ||||||||
| Broad nasal bridge | + | + | + | + | |||||
| Hand/foot abnormality | +m | +n | +o | +o | − | − | − | 4p,q/5 | |
| Hypertelorism | + | + | + | ||||||
| Epicanthal folds | + | + | 2/5 | ||||||
| Micrognathia | + | − | + | + | 3/5 | ||||
| Microcephaly | − | + | + | 1/6 | |||||
| Additional features | +r | +s | +t | +u | +v | +w | 6/6 | ||
| Other | +x | +y | +z | +aa | +bb | ||||
Note.— “+” = feature present; “−” = feature absent; blank cells indicate unknown or patient too young to determine; A = arched.
Hypoplastic left heart.
Tetrology of Fallot and right-sided aortic arch.
Tetrology of Fallot.
Hypoplastic left heart and interrupted aortic arch.
Impairment secondary to recurrent otitis media.
Mild conductive deafness.
Speech delay.
Developmental delay.
Learning difficulties.
Impulsivity and aggression.
Short concentration span and social immaturity.
Childhood aggression and childhood ADD.
Clinodactyly of the fifth fingers.
Hypoplastic fifth fingernail and toenails smaller than normal.
Broad hands, with square tipped fingers and prominent fetal finger pads.
Abnormal palmar creases.
Long fingers and/or toes.
High forehead, round face, flat supraorbital ridge, short nose, thin upper lip, and long, smooth philtrum.
Narrow face and downslanting palpebral fissures.
Prominent eyes, medial deficiency of the eyebrows, and prominent chin and lower lip.
Eversion of the lateral eye lids and bulbous nasal tip.
Facial asymmetry.
Mild synophrys, tented peak in the middle of each eyebrow, facial asymmetry, and small, downslanting mouth.
Maternal half brother (aged 16 years) with developmental delay, paternal cousin (aged 9 years) with behavioral problems, and another paternal cousin with cleft lip and palate.
Gross motor delay and poor fine-motor skills.
Nystagmus and myopia; prominent metopic suture, with an anterior fontanel of a width of three fingers; sagittal sutures widely separated; and open posterior fontanel.
Left ear pit.
Chorioretinal coloboma, visual impairment, and preauricular skin tags.