Table 4.

Excluded studies report cases with distal chromosomal deletions on chromosomes 4p and 10q

Study	Associated syndrome	Methods	# cases reported	Gene	Variant/type/allele	Position Gen/protein	Inheritance	Sanger confirmation	Functional studies
Shimizu et al. [15]	Wolf–Hirschhorn syndrome (WHS)	G-banded karyotyping Fluorescence in situ hybridization (FISH) Chromosomal microarray analysis (whole-genome oligonucleotide-based array platforms)	21 (one individual of the 22 reported does not include a deletion in the CTBP1 gene)	CTBP1 (4p16.3) among others	Distal chromosome 4p deletion	Chromosome 4p hemizygosity of CTBP1	De novo = 20 Maternal = 1	Not apply	No
Callaway et al. [16]	Wolf–Hirschhorn syndrome (WHS)	Chromosomal microarray analysis	1	CTBP1 (4p16.3) among others	Distal chromosome 4p deletion	Chromosome 4p hemizygosity of CTBP1	De novo	Not apply	No
Irving et al. [17]	Partial deletion of the long arm of chromosome 10	Karyotyping FISH	1 case with breakpoint 26.13–26.3 0f 15 reported with Chr.10q deletions	CTBP2 (10q26.13) among others	Distal chromosome 10q deletion: del(10)(q26.13–26.3)	Chromosome 10q hemizygosity of CTBP2	De novo	Not apply	No
Vera-Carbonell et al. [18]	The 10q26 deletion syndrome	Karyotyping FISH Oligo array-CGH analysis	3	CTBP2 (10q26.13) among others	Distal chromosome 10q26 deletion	Chromosome 10q hemizygosity of CTBP2	De novo	Not apply	No