Abstract
We report a 32-month-old female of Peruvian ethnicity identified with a rare 20q13.2-q13.33
deletion using microarray analysis. She presented with intellectual disability, absent
speech, hypotonia, pre- and post-natal growth retardation and an abnormal face with
a unilateral cleft lip. Clinical features and genetic findings with the loss of 30
genes, including GNAS, MC3R, CDH4 and TFAP2C, are described in relationship to the very few cases of 20q13 deletion reported in
the literature. Deletion of this region may play an important role in neurodevelopment
and function and in causing specific craniofacial features.
Keywords
Microarray analysis - 20q13 deletion - intellectual disability - atypical development
- dysmorphic features - cleft lip
