Chromosome 1q deletion syndrome. 1q minus syndrome.
Incidence
Some cases are associated with ring chromosomes.
Clinical Characteristics
Deletion of the long arm of chromosome 1 characterized by multiple anomalies and neurological signs, including psychomotor and developmental delay, hypotonia, seizures, characteristic facies, congenital heart diseases, osseous defects, and genital anomalies.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype shows deletion of the long arm of chromosome 1.