Table 1.
Chromosomal anomalies, recurring and de novo CNVs seen in VACTERL patients
| Chromosome | Type | Remarks (hg18) | Inheritance | Reference |
|---|---|---|---|---|
| 1q41 | gain | ** | de novo | – |
| 2q37.3 | gain | ** | de novo | – |
| 2q22–q24.2 | deletion | del(2)(q22q24.2) | de novo | Woods et al., 1993 |
| 3q28 | loss | chr3:189,395,885–189,951,376 | de novo | Arrington et al., 2010 |
| 5q11 | loss | chr5:51,185,650–55,001,348 | ICSI; father NA | de Jong et al., 2010 |
| 6q25.3–q27 | loss | * | NA | – |
| 6q13–q15 | deletion | del(6)(q13q15) | de novo | McNeal et al., 1977 |
| 7 | duplication | trisomy 7 | de novo | Schinzel, 2001 |
| 8q24.22–q24.3 | gain | * | NA | – |
| 8q24.3 | gain | ** | de novo | – |
| 10q22–qter | duplication | dup(10)(q22) | de novo | Field et al., 1983 |
| 10q25.3 | gain | chr10:116,250,268–116,546,953 | inherited-mat | |
| 10q25.3 | gain | chr10:116,261,258–116,515,586 | inherited-mat | |
| 11q23–qter | duplication | 47,XY+der(22)t(11;22)(q23;q11.2) | de novo | Prieto et al., 2007 |
| 12 | duplication | r(12) | de novo | Cinti et al., 2001 |
| 13,r(13) | duplication | trisomy 13 | de novo | Felix et al., 2007; Lorentz et al., 2002 |
| 16p12.1 | loss | chr16:21,854,140–22,342,140 | inherited-mat | de Jong et al., 2010 |
| 16q24.1 | loss | chr16:82,908,199–86,405,076 | de novo | Stankiewicz et al., 2009 |
| 17q23.2–q24.3 | deletion | del(17)(q23.2q24.3) | de novo | Levin et al., 1995 |
| 17q22–q23.3 | deletion | del(17)(q22q23.3) | de novo | Marsh et al., 2000 |
| 18q12.1 | loss | * | NA | – |
| 18q22.2–qter | deletion | del(18)(q22.2) | de novo | Dowton et al., 1997 |
| 18,r(18) | duplication | trisomy 18 | de novo | Felix et al., 2007; van der Veken et al., 2010 |
| 21 | duplication | trisomy 21 | de novo | Felix et al., 2007 |
| 22q11.2 | gain | chr22:17,281,004–19,792,353 | de novo | Schramm et al., 2011 |
| 22q11.2 | gain | chr22:17,017,139–18,665,833 | inherited-mat | |
| 22pter–q11.2 | duplication | 47,XY+der(22)t(11;22)(q23;q11.2) | de novo | Prieto et al., 2007 |
| X | duplication | triple X | de novo | Brosens et al., 2012 |
| Xp22.3 | gain | chrX:242,432–1,318,727 | inherited-pat | Brosens et al., 2012 |
| Xp22.3 | gain | chrX:327,015–1,889,115 | inherited-mat | Brosens et al., 2012 |
*
Abstract Shin et al. [2011], American Society of Human Genetics;
**
abstract Hilger et al. [2012], European Society of Human Genetics; NA = data not available; mat = maternal; pat = paternal; ICSI = intracytoplasmic sperm injection; recurrent CNV in bold.