A variety of microdeletions at and around 2q33 have been reported with overlapping features.

Chromosomal sites: 2q32, 2q33, 2q33.1, 2q32q33, 2q33q34


Implicated gene: SATB2 (SATB homeobox 2)


Clinical features:

(1) learning disabilities

(2) speech delays

(3) growth retardation

(4) dysmorphic facial features (micrognathia, dental anomalies)

(5) cleft and/or high palate

(6) feeding difficulties in infancy

(7) hypotonia

(8) behavioral issues

(9) variable congenital heart defects

(10) variable genitourinary anomalies

(11) variable skeletal anomalies

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