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J Pediatr Genet 2013; 02(03): 157-161
DOI: 10.3233/PGE-13065
Case Report
Georg Thieme Verlag KG Stuttgart – New York

20q13.2-q13.33 deletion syndrome: A case report

Merlin G. Butler
a   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
,
Kelly M. Usrey
a   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
,
Jennifer L. Roberts
a   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
,
Ann M. Manzardo
a   Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA
,
Stephen R. Schroeder
b   Kansas University Center on Developmental Disabilities, Schiefelbusch Institute for Life Span Studies, University of Kansas, Lawrence, KS, USA
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Publication History

15 August 2013

04 October 2013

Publication Date:
27 July 2015 (online)

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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