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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.