|
Antich et al4
|
German et al1
1-150
|
Davis et al8
1-150
|
Present case
|
Lucas et al5
1-150
|
Frydman et al6
1-150
|
Fryns et al2
|
McConnell et al3
|
Deletion | q12-q14 | q13-q21 | q13-q21 | q14.1-q21 | q14-q21 | q14-q21 | q21-q24 | q22-q31 |
Parental origin of deletion | Unknown | Unknown | Paternal karyotype | Paternal | Unknown | Unknown | Unknown | Unknown |
46,XY, inv (9), t(2,7)(q32.2;p11) |
Sex | M | M | F | M | F | F | F | F |
Age | 8 mth1-151
| 30 mth | 29 mth1-151
| 17 y | 11 mth | 2 y | 2 mth1-151
| Newborn1-151 |
Birth weight (g) | 2400 | | 2790 | 4140 (97th centile) | 3060 | 4900 | 2500 | 1500 |
Growth | Failure to thrive | | Failure to thrive | Poor weight gain (5th centile) | | Weight 40th centile; | Failure to thrive | Not applicable |
Linear growth normal (80th centile) | Length 10th centile |
Developmental delay/ learning difficulties | + (Severe) | | + (Severe) | Mod learning difficulties | | Severe dev delay | + (Severe) | Not applicable |
Attention deficit disorder |
OFC | Microcephaly | Microcephaly | Macrocephaly | Macrocephaly | | Microcephaly | Microcephaly | Hydrocephalus |
Head circumference at birth 32 cm | Head circumference at birth: 36 cm (>95th centile) | Head circumference 90–97th centile | Head circumference at birth 32.5 cm (<3rd centile) |
Callosal defect | + | | + | Unknown | | + | | + |
Sutural irregularities | + | | | No | + | No | | + |
Prominent forehead | + | | | + | + | + | + | |
Ocular anomalies | | | | Normal ophthalmic examination | | Corneal opacity | Cataract | |
Peter's anomaly | Microphthalmia |
Low set ears | + | | | + | + | + | + | + |
Malformed ears | + | | + | + | | + | | |
Mandible | Micrognathia | | | Prominent, obtuse angulation | | Micrognathia | Micrognathia | Micrognathia |
Cleft lip/palate | + | | | No | | No | + | + |
Cardiac malformation | Ventriculoseptal defect | | Atrial septal defect | Aortic root dilatation | No | Patent ductus | Patent ductus | Truncus arteriosus |
arteriosus | arteriosus |
Recurrent infections/ unusual immune responses | + | | + (Recurrent unexplained febrile episodes) | No | + | + | + | |
Leukaemoid reactions |
Other anomalies | Hydronephrosis | Abnormal gait | Loose skin | Hypotonia in infancy | Hypotonia in infancy | Cortical blindness | Polycystic ovaries | Encephalocele |
Postaxial hexadactyly of toes | Hemizygosity at the MN locus | Generalised hyperextensibility | Pectus carinatum | Seizures |
Dandy-Walker malformation | Kyphoscoliosis | Renal malrotation and ectopia |
Imperforate anus | Hydrocephalus | Proximal upper limb weakness | Anteriorly placed anus |
Partial agenesis of the cerebellar vermis | Winging of scapulae |
Ovarian dysgenesis |
Clinodactyly |