Additional Disease Briefs

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chromosome 16p12.2-p11.2 deletion syndrome

Also known as: 16p11.2-p12.2 microdeletion syndrome, 16p11.2p12.2 microdeletion syndrome, Del(16)(p11.2p12.2), chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-MB, chromosome 16p12.2-p11.2 deletion syndrome, isolated cases, monosomy 16p11.2-p12.2, monosomy 16p11.2p12.2


chromosome 16p13.3 duplication syndrome

Also known as: 16p13.3 duplication, 16p13.3 microduplication syndrome, chromosome 16p13.3 duplication, chromosome 16p13.3 duplication syndrome, chromosome 16p13.3 duplication syndrome, isolated cases, distal duplication 16p, distal trisomy 16p, dup(16)(p13.3), interstitial 16p13.3 duplication, telomeric duplication 16p, trisomy 16pter




chromosome 17p13.3 duplication syndrome

Also known as: 17p13.3 duplication syndrome, 17p13.3 microduplication syndrome, chromosome 17p13.3 centromeric duplication syndrome, chromosome 17p13.3, centromeric, DUPLICATION syndrome, dup(17)(p13.3), trisomy 17p13.3



chromosome 17q11.2 deletion syndrome, 1.4Mb

Also known as: 17q11 microdeletion syndrome, Del(17)(q11), MMFD, NF1 microdeletion syndrome, NF1 microduplication syndrome, RNF135-related overgrowth syndrome, Van Asperen syndrome, chromosome 17q11.2 deletion syndrome, chromosome 17q11.2 deletion syndrome, 1.4-MB, macrocephaly, macrosomia, and facial dysmorphism syndrome, monosomy 17q11, neurofibromatosis 1 microdeletion syndrome, neurofibromatosis type 1 microdeletion syndrome, overgrowth-macrocephaly-facial dysmorphism syndrome


chromosome 17q12 deletion syndrome

Also known as: 17q12 deletion syndrome, 17q12 microdeletion syndrome, 17q12 recurrent deletion syndrome, Del(17)(q12), chromosome 17q12 deletion syndrome, monosomy 17q12


chromosome 17q12 duplication syndrome

Also known as: 17q12 duplication, 17q12 microduplication, 17q12 microduplication syndrome, chromosome 17q12 duplication syndrome, dup(17)(q12), recurrent duplication of 17q12, trisomy 17q12