Disease Information for 18p chromosome deletion complex (Clinical Manifestations)

18q deletion syndrome, 18q SYNDROME, Chromosomal deletion, chromosome 18 long arm deletion, CHROMOSOME 18q DELETION SYNDROME, chromosome 18q monosomy, CHROMOSOME 18q SYNDROME, Chromosome Deletion, Chromosome Deletions, de Grouchy syndrome 2, del, del(18q) syndrome, Delet long arm chromosome 18, Deletion (Chromosome), deletion 18q syndrome, deletion chromosome, Deletion of chromosome, Deletion of chromosome (disorder), Deletion of long arm of chromosome 18, Deletion of long arm of chromosome 18 (disorder), Deletions Chromosome, Monosomies Partial, monosomy 18q, Monosomy Partial, Partial Monosomies, Partial Monosomy, Partial monosomy (morphologic abnormality), partial monosomy 18q

18p Deletion or DNA distortion/mutation usually shows as dystonia; Congenital deformity with developmental brain anomalies; primary idiopathic torsion dystonia or sporatic adult onset dystonia; usually focal or segmental dystonia at onset; hereditary variants with autosomal dominance; starts in one limb

Deletion of the short arm of chromosome 18- It is one of the most fre quently occurring chromosomal aberrations with minimal abnormalities visible at birth, which become more apparent at the age of three years; The phenotype is marked mainly by holoprosencephaly, brachycephaly, broad facies, blepharoptosis, downturned corners of the mouth, tooth abnormalities, broad neck with low posterior hairline, funnel chest, enlarged labia majora, hand abnormalities, mental retardation ranging from mild to severe, and other malformations; The phenotype varies from case to case, frequently reflecting the length and type of deletion: del(18p) mosaicism is associated with abnormalities which are similar to those in del(18p) and include microphthalmia and cataract and cyclopia may occur in del(18p) in mosaicism with dup(18p)

[Jablonski/NIH archives 2007]

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