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Table 1 MLPA and BAC FISH results in Cases 1 to 4:

From: 8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Band BAC/MLPA* Mb from telomere
(hg 18 Build 36)
Case 1
Proband
Case 2
Proband
Case 3
Proband,
sister and
father
Case 4
Proband
and mother
8p23.3 RP11-410N18 1,980,652-2,132,993 - Normal - -
8p23.2 RP11-159F11 2,215,497-2,435,332 - Normal - -
8p23.2 CSMD1 (4 probes)* 2,780,282-4,839,736 Normal - - Normal
8p23.1 CTD-2629I16 6,684,740-6,685,317 - Normal Normal -
8p23.1 ANGPT2* 6,347,22 -6,408,174 Normal - - Normal
8p23.1 DEFB1 (2 probes)* 6,715,511-6,722,939 Normal - - Normal
8p23.1 DEFA6 (2 probes)* 6,769,631-6,771,008 Normal - - Normal
8p23.1 DEFA4 (2 probes)* 6,780,755-6,783,196 Normal - - Normal
8p23.1 DEFA5* 6,900,239-6,901,669 Normal - - Normal
REPD RP11-594D21 7,105,087-7,258,467 - Normal - -
REPD RP11-122N11 7,295,548-7,305,838 - _ dup -
REPD RP11-1118M6 7,286,844-7,462,059 - dup _ -
REPD RP11-774P7 7,318,738-7,396,455 - Normal _ -
REPD DEFB4 etc (10 probes)* 7,789,609-7,791,647
Complex
Normal _ _ trp
8p23.1 RP11-211C9 8,504,285-8,677,721 _ dup dup -
8p23.1 MFHAS1 (MASL1)* 8,679,409-8,788,541 dup _ _ Normal
8p23.1 PPP1R3B* 9,031,186-9,045,630 dup _ _ Normal
8p23.1 TNKS* 9,450,855-9,677,266 dup _ _ Normal
8p23.1 MSRA* 9,949,189-10,323,803 dup _ _ Normal
8p23.1 BLK* 11,388,930-11,459,516 dup _ _ Normal
8p23.1 GATA4* 11,599,162-11,654,918 dup _ _ Normal
8p23.1 RP11-589N15 11,627,380-11,803,128 - dup dup -
REPP RP11-351I21 12,233,365-12,434,472 - dup _ -
REPP RP11-24D9 12,433,487-12,590,982 - - dup -
8p22 RP11-433L7 14,278,096-14,461,154 - - Normal -
8p22 MSR1* 16,009,758-16,094,671 Normal - - Normal
8p21.3 CGAT1* 19,305,952-19,584,374 Normal - - Normal
  1. Letters in bold highlight the G-dark bands, REPD and REPP and the results with a change in copy number.
  2. Dashes indicate probes "not tested" and longer dashes (in bold) those "not tested" but expected to show copy number change based on the other results.
  3. BAC names are given without italics and the genes targeted by MLPA probes in italics.