A large noncontiguous deletion of two neighboring regions (approximately 8 kb and 43 kb) left an approximately 2 kb region containing exon 1 of the Hoxd8 gene in the locus between the deleted regions. The end result is a functional deletion of Hox8d, d9, d10, d11, d12 and d13. The flanking genes, Evx2 and Hoxd4, remained intact. (J:103924)
Basic Information
Intergenic deletion, Intragenic deletion
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count