Chromosome 18p syndromeQ99.9
Synonym(s)
18p syndromes; chromosome 18-p deletion syndrome
HistoryThis section has been translated automatically.
De Grouchy et al., 1963
DefinitionThis section has been translated automatically.
Mostly distinct dysmorphia syndrome, caused by deletion of the complete short arm of chromosome 18.
EtiopathogenesisThis section has been translated automatically.
Deletion of the entire short arm of chromosome 18, in about 90% as a new mutation. In about 10% of cases unbalanced segregation of a parental balanced translocation or inversion. Very rarely direct transmission from one parent.
Clinical featuresThis section has been translated automatically.
imbecility. Small stature, adult size 1.40 to 1.50 m; delayed bone maturation, hypoplasia of the male external genitals, short fingers with clinodactyly of the small fingers; more rarely: hypospadias, total alopecia, complete IgA deficiency and tendency to autoimmune diseases, including juvenile diabetes, thyroiditis with subsequent hypothyroidism, chronic dermatitis, rheumatoid arthritis.
LiteratureThis section has been translated automatically.
- Andler W, Heüveldop A, Polichronidou T (1992) Endocrinological disorders with deletions of the chromosome 18th month of pregnancy 140: 303-306
- Babovic-Vuksanovic D et al (2004) Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation. At J Med Genet 124A: 318-322
- De Grouchy J, Lamy M, Thieffry S et al. (1963) Dysmorphia complexe avec oligophrénie: Délétion des bras courts d'un chromosome 17-18 C R Acad Sci 256: 1028-1029
- Rao VB et al (2001) 18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype. Ann Genet 44: 187-190