Additional Disease Briefs

6-phosphogluconate dehydrogenase deficiency

6p22 microdeletion syndrome

Also known as: Del(6)(p22), monosomy 6p22

6q terminal deletion syndrome

6q16 deletion syndrome

Also known as: Del(6)(q16), Prader-Willi-like syndrome due to deletion 6q16, monosomy 6q16

7p22.1 microduplication syndrome

Also known as: dup(7)(p22.1), trisomy 7p22.1

7q11.23 microduplication syndrome

Also known as: 7q11.23 duplication syndrome, Somerville-Van Der Aa syndrome, Wbs Duplication syndrome, Wbs triplication syndrome, Williams-Beuren region DUPLICATION syndrome, chromosome 7Q11.23 Duplication syndrome, chromosome 7Q11.23 triplication syndrome, dup(7)(q11.23), trisomy 7q11.23

7q31 microdeletion syndrome

Also known as: Del(7)(q31), monosomy 7q31

8p inverted duplication/deletion syndrome

Also known as: Invdupdel(8p), inverted 8p duplication/deletion syndrome

8p11.2 deletion syndrome

Also known as: Del(8)(p11.2), monosomy 8p11.2

8p23.1 duplication syndrome

Also known as: dup(8)(p23.1p23.1), trisomy 8p23.1