Skip to main content

Advertisement

Table 4 Characterization of the Williams-Beuren syndrome critical region deletion by single-nucleotide polymorphism array a

From: Presence of autism, hyperserotonemia, and severe expressive language impairment in Williams-Beuren syndrome

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