Chromosome 3q deletion syndrome. 3q minus syndrome
Incidence
Rare syndrome.
Clinical Characteristics
Deletion of the long arm of chromosome 3 with a variable phenotype consisting mainly of microcephaly, unusual facial appearance, eye abnormalities, deformed ears, and delay in growth and development. Partial deletion of the long arm of chromosome 3 is also involved in the blepharophimosis-ptosis-epicanthus inversus syndrome.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 3. Several deletions are included. Deletion 3q22.3 is associated with the blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome.