Additional Disease Briefs

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chromosome 1p32-p31 deletion syndrome

Also known as: 1p31p32 microdeletion syndrome, BRMUTD, Del(1)(p31p32), brain malformations with or without urinary tract defects, chromosome 1p32-p31 deletion syndrome, monosomy 1p31p32



chromosome 1p36 deletion syndrome

Also known as: 1p telomere deletion syndrome, 1p36 deletion syndrome, 1p36 microdeletion syndrome, Del(1)(p36), chromosome 1p36 deletion syndrome, chromosome 1p36 deletion syndrome, distal, isolated cases, deletion 1p36, deletion 1pter, monosomy 1P36 syndrome, monosomy 1p36, monosomy 1pter, subtelomeric 1p36 deletion



chromosome 1q21.1 deletion syndrome

Also known as: 1q21.1 microdeletion, 1q21.1 microdeletion syndrome, 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders), Del(1)(q21), chromosome 1q21.1 deletion syndrome, 1.35-MB, chromosome 1q21.1 deletion syndrome, isolated cases, chromosome 1q21.1 microdeletion syndrome, monosomy 1q21.1


chromosome 1q21.1 duplication syndrome

Also known as: 1q21.1 microduplication syndrome, 1q21.1 recurrent microduplication (possible susceptibility locus for neurodevelopmental disorders), chromosome 1q21.1 duplication syndrome, chromosome 1q21.1 duplication syndrome, isolated cases, dup(1)(q21.1), trisomy 1q21.1


chromosome 1q41-q42 deletion syndrome

Also known as: 1q41-q42 deletion syndrome, 1q41-q42 microdeletion syndrome, 1q41q42 microdeletion syndrome, Del(1)(q41q42), chromosome 1q41-q42 deletion syndrome, chromosome 1q41-q42 deletion syndrome, isolated cases, deletion 1q41-q42, holoprosencephaly 10, monosomy 1q41-q42, monosomy 1q41q42


chromosome 22q11.2 deletion syndrome, distal

Also known as: chromosome 22q11.2 deletion syndrome, distal, distal 22q11.2 microdeletion syndrome, distal chromosome 22Q11.2 deletion syndrome, distal del(22)(q11.2), distal monosomy 22q11.2


chromosome 22q11.2 microduplication syndrome

Also known as: 22q11 duplication syndrome, 22q11.2 duplication, 22q11.2 duplication syndrome, 22q11.2 microduplication syndrome, Duplication 22q11.2, chromosome 22q11.2 DUPLICATION syndrome, chromosome 22q11.2 duplication syndrome, chromosome 22q11.2 microduplication syndrome, chromosome 22q11.2 microduplication syndrome, isolated cases, dup(22)(q11), duplication 22q11.2, trisomy 22q11.2