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. Author manuscript; available in PMC: 2011 Oct 1.
Published in final edited form as: Hum Mutat. 2010 Oct;31(10):1142–1154. doi: 10.1002/humu.21328

Table 9.

GCPS patients without mutations

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.