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J Med Genet 39:202-204 doi:10.1136/jmg.39.3.202
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Prader-Willi syndrome and a deletion/duplication within the 15q11-q13 region

Table 1

PCR and FISH data in linear order from the 15q11-q13 region

D15S1035 D15S541 D15S542 D15S543 D15S11 D15S817 D15S63 D15S128 MN1 SNRPN D15S122 D15S210 D15S113 GABRB3 GABRA5 D15S822 D15S156 D15S219 D15S217 D15S165
*Paternal duplication status; †paternal deletion status; ‡deletion inferred by proximal and distal loci status; §biparental (normal) inheritance.
(-) = deletion status determined by FISH.
Mother 1,4 2,4 2,3 2,2 2,2 2,4 2,3 3,3 1,1 1,1 3,4 1,3 1,3 1,2 2,2 1,3 1,2 1,2 1,3
PWS proband 3,4,5* 2,3,4* 3,4,5* 2,2 or 2,- 2 (-) 4† 2† 3† 1‡ (-) 1† 4† 3‡ 3 (-) 2† 2† 3,3 or 3,- 2,2 or 2,- 1,1 or 1,- 2,3§
Father 1,3,5 1,2,3 1,4,5 1,2 1,2 1,3 1,3 1,2 1,2 2,2 1,2 2,3 2,3 3,3 1,3 2,3 2,2 1,1 2,3
Sib 1 1,1 1,2
Sib 2 1,1 1,2
Paternal uncle 1 1,3,5 1,2
Paternal uncle 2 2,3,5 1,2

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