Chromosome 19q duplication syndrome. 19q+ syndrome. Trisomy 19q.
Incidence
Very rare syndrome. Sporadic and familial cases have been reported.
Clinical Characteristics
Duplication of the long arm of chromosome 19 with psychomotor retardation, microbrachycephaly, open cranial sutures, downslanting palpebral fissures, blepharoptosis, hypertelorism, downturned corners of the mouth, and short nose. The severity of symptoms is related to the length of the duplicated segment.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Duplication of the long arm of chromosome 19.