Table 4.

Characterization of the Williams-Beuren syndrome critical region deletion by single-nucleotide polymorphism array ^a

Characteristics	Patient 1	Patient 2
Size of the deletion (Mb)	1.41	1.67
Centromeric breakpoint (SNP nt position)
First hemizygous probe locus	72360917	72229683
Homology block in centromeric LCR	C	B
Effect	Intronic interruption of the FKBP6 gene	Intronic interruption of the transcription factor IIi, pseudogene 1 (GTF2IP1)
Telomeric breakpoint (SNP nt position)
Last hemizygous probe locus	73772847	73900557
Homology block in medial LCR	B	B
Effect	Intronic interruption of the GTF2I gene	Intronic interruption of the GTF2IRD2 gene

^aLCR low copy repeat, nt nucleotide, SNP single-nucleotide polymorphism.