Table 9.
Individual | Deletion Analysis | Findings and Symptoms | Additional Findings | ||||||
---|---|---|---|---|---|---|---|---|---|
Mesoaxial Polydactyly |
Postaxial Polydactyly |
Preaxial Polydactyly |
Cutaneous Syndactyly |
Macrocephaly | Wide spaced eyes |
MRI Findings | |||
G41 | Array | FL | + | ||||||
G42 | HB | FB, soft tissue | HB | Agenesis of CC, brain cyst, brain stem hypoplasia | |||||
G43 | Array | HB | FB | FB | |||||
G44 | Array | HB | HR | + | Agenesis of CC | Small nose, prominent forehead, deformed ear, MR | |||
G45 | Array | FB | + | Porencephaly of left occipital and left temporal lobes, absence of septum pellucidum, hypoplastic optic nerves | Bilateral hernia, midline capillary vascular malformation, tetralogy of Fallot | ||||
G46 | Array | HB3, FB | HB, FB | Trigonocephaly |
HB, hands bilateral; HR, hand right; FB, foot bilateral; FL, foot left; HB3, wide thumbs; CC, corpus collosum; MR, mental retardation; +, presence of finding.