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. Author manuscript; available in PMC: 2010 May 1.
Published in final edited form as: Hum Mutat. 2009 May;30(5):771–775. doi: 10.1002/humu.20944

Table 1.

Origin of non-disjunction (NDJ) and chromosome 21 gene-marker recombination analysis in Down syndrome (DS) individuals with or without Hirschsprung disease (HSCR).

Number (%) of cases
DS with HSCR DS without HSCR
Sample size 23 23
Origin of NDJ
Maternal origin of NDJ 21 (91) 22 (96)
Meiosis I NDJ 17 (74) 18 (78)
Genes Tetratype frequency
SOD1 0.17 ±0.08 0.10 ±0.06
IL10RB, IFNGR2, SON, CBR1 0.33 ±0.10 0.21 ±0.09
TTC3 0.45 ±0.11 0.22 ±0.10
TFF3 0.61± 0.10 0.96 ±0.04
CSTB, PFKL 0.64 ±0.10 1.00 ±0.00

The analyses are based on a set of 23 DS trios with HSCR matched with a set of 23 DS trios without HSCR.