Chromosome 2q deletion syndrome. 2q minus syndrome.
Incidence
Rare sporadic condition.
Clinical Characteristics
Deletion of the long arm of chromosome 2 with a highly variable phenotype marked mainly by low birth weight, delayed somatic and mental development, craniofacial defects (relative small facial features with eye, ear, and nose abnormalities), short neck, finger deformities, heart and lung congenital defects, and other anomalies. Clinical characteristics vary with different karyotypes. Patients monosomic for 2q22-q24 have relatively constant clinical features marked by low birth weight, small facial features, micrognathia, cleft palate, and great vessel abnormalities, but those who are monosomic for 2q31-q33 exhibit a highly variable phenotype, having only developmental delay and low-set ears as a constant feature which may be associated with other anomalies. In many aspects, the phenotype is similar to that in trisomy 18.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
Karyotype. Deletion of the long arm of chromosome 2.