Table 1.
Clinical comparison between patients with 12q deletions
| Baple et al., 2010 | Present patient | Qiao et al., 2012 | Sathya et al., 1999 | Plotner et al., 2003 | |
|---|---|---|---|---|---|
| Deletion | 12q24.31 (119,647,954–120,984,333) | 12q24.31 (119,633,574–120,613,673) | 12q24.31 (120,742,688–122,308,925) | 12q24.31q24.33 | 12q24.31q24.32 |
| Size of the deletion | between 1.58 and 2.53 Mb | 980 kb | 1566 kb | ||
| De novo deletion | yes | inherited from the father | yes | – | |
| Age at examination | 11 years | 27 months | 8 years 4 months | 9 months | 20 months |
| Healthy parents | yes | father: insulin-dependent diabetes at 14 years | yes | ||
| Mother pregnancy | sudden unexplained weight gain at 36 weeks | – | polyhydramnios at 31 weeks | cephalopelvic disproportion | |
| Weight at birth | 4.1 kg (90–95th centile) | 2.9 kg | 2.6 kg (45th centile) | 2.84 kg (10th centile) | |
| Weight | 11.8 kg at 1 year | 12.5 kg at 1.5 years (90th centile) | 5.25 kg at 3 months (25th centile) | ||
| Overgrowth despite dietary regimens | ++ at 11 years | 11.3 kg at 2.3 years (50th centile) | |||
| Microcephaly | – | ++ (42.5 cm at 2.3 years, <<3rd centile) | + (30.5 cm, <5th centile) | + (37 cm at 3 months, <5th centile) | |
| Hypoglycaemia | ++ immediately after birth | – | – | ||
| Glucose stabilisation | 4 years | ||||
| Hypotonia | + | + | + | ||
| Macroglossia | ++ | +/– | + | – | |
| Overgrowth | ++ | – | disproportionate growth failure | ||
| Developmental delay | ++ | ++ | ++ | ++ | ++ |
| Behavioural problems | + | ||||
| Developmental progress | very slow | very slow | slow | ||
| Walking | 18 months | few steps with support | few steps with support | ||
| Speaking | few words at 2 years | – | few words | ||
| Anxiety | ++ | – | |||
| Autistic spectrum disorder | + at 4 years | – | simplex | ||
| Urinary continence | + | – | |||
| Epilepsy (West syndrome) | – | + at birth | – | ||
| Constipation | ++ | ++ until 2 years | – | ||
| Upslanted palpebral fissures | + | – | + synophrys | short palpebral fissures, ptosis left eye | |
| Nose | broad nasal base | bulbous nasal tip | high nasal root with thick alae nasi and a square tip | short nose, anteverted nares | large bulbous nose, anteverted nares, smooth philtrum |
| Fontanelles | – | large anterior fontanelle | |||
| Full cheeks | + | + | + | + | |
| Palate | higly arched | +/– higly arched | narrow palate | high narrow palate with thick gums | |
| Overcrowded teeth | + | – | prominent front incisors | ||
| Full and everted lower lip | + | thin lower lip | |||
| Ears | large and narrow ears with a thick helix | narrow ear orifice | small, low-set and posteriorly rotated ears | normal ears | large prominent ears |
| Inverted nipples | + | – | |||
| Café-au-lait spot | 1 truncal | 1 back, 1 thigh, 2 buttock | 1 lower back | mongolian spot on the lower back | |
| Large hands and feet | + | – | bilateral pes planovalgus | ||
| Tapering of the fingers | + | – | ++ | + | |
| Toes | short toes | – | bilateral hypoplastic nails on both halluces | great toes dorsiflexed | |
| Fingers | left 4th finger proximally implanted | – | prominent fingertip pads | long fingers, patulous finger tips, long thumb | 5th finger clinodactyly |
| Bone | shortening of the 4th metacarpal bone | ||||
| Cardiac defects | – | – | – | + (PFO-PDA) | + (ASD-VSD-PFO-PDA) |
| Tracheomalacia | – | – | + | – | |
| Genital abnormalities | – | – | bifid scrotum, grade 2 hypospadias, chordee | sacral pit, large pubic fat pad |
– = Absent
+ = present
++ = strongly noted
+/– = weakly noted
PFO = patent foramen ovale
PDA = patent ductus arteriosus
ASD = atrial septal defect
VSD = ventricular septal defect.