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ajmg_35345_sm_SupplFig1.tif91KFig. 1: Results of cytogenetic analyses of the affected son. A. Standard GTG banding. Chromosome pairs 3 and 4 are indicated with an arrow. B. FISH with 3p and 3q telomere probes. The lack of 3p telomeric probe signal is indicated with an arrow. C. FISH with telomere 4p and 4q probes. An additional signal of the 4q telomeric probe is indicated with an arrow. The final karyotype was: 46,XY,der(3)t(3;4)(p25;q31.3).ish der(3)t(3;4)(p26.3-,q35.2+)(D3S4559-,D4S2930+)
ajmg_35345_sm_SupplFig2.tif241KFig. 2: Partial monosomy of the short arm of chromosome 3p in the patient (A) and his father (B) by aCGH.
ajmg_35345_sm_SupplFig3.tif357KFig. 3: Partial trisomy of the long arm of chromosome 4q in the patient (A) and his father (B) as shown by aCGH.
ajmg_35345_sm_SupplTab1.doc181KTable I
ajmg_35345_sm_SupplTab2.doc63KTable II

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