Chromosome 6q deletion syndrome. 6q minus syndrome. Monosomy 6q.
Incidence
Very rare syndrome. Sporadic.
Clinical Characteristics
Deletion of the long arm of chromosome 6 with delayed mental development and variable multiple abnormalities, mainly microcephaly, orofacial anomalies, short neck, cardiovascular defects, abnormal dermatoglyphics, hand deformities, and other defects.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 6