Homozygous alpha-thalassemia associated with hypospadias: SEA-type deletion does not affect expression of the -14 gene and loss of the straight theta1-globin gene on 16p13.3 is compensated by its duplicate straight theta2 on chromosome 10.
Utsch
B
B
Albers
N
N
Dame
C
C
Bartmann
P
P
Lentze
M J
MJ
Ludwig
M
M
D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D020440:Gene Duplication; D005786:Gene Expression Regulation; D005914:Globins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007021:Hypospadias / Q000150:complications / Q000235:genetics*; D008297:Male; D005810:Multigene Family / Q000235:genetics; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics*
D005914:Globins