Table 2.

Genomic Disorders That Coincide with the Locations of Hsmar2 Elements Detected by PRINS

Genomic disease Type of rearrangement Length of repeat (bp) Locus
21-Hydroxylase deficiencydeletion(?)[i] 6p21.3
Williams–Bueren syndromedeletion>30,0007q11.2
Glucocorticoid-remediable aldosteronismduplication10,0008q21
Prader–Willi/Angelman syndromedeletion(?)15q13
CMT1A/HNPPduplication/deletion24,00017p12
Growth hormone deficiencydeletion2,20017q22–24
Debrisoquine sensitivitydeletion2,80022q13.1
X-Linked ichthyosisdeletion20,000Xp22.32
α–Thalessemiadeletion4,000Xq13
Color blindnessdeletion39,000Xq28
Hunter mucopolysaccharidosisinversion3,000Xq28
Hemophila Ainversion9,500Xq28

[i] (?) The length of the repeat involved is unknown.