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

Article type: Other

Authors: Butler, Merlin G.; | Usrey, Kelly M. | Roberts, Jennifer L. | Manzardo, Ann M. | Schroeder, Stephen R.

Affiliations: Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA | Kansas University Center on Developmental Disabilities, Schiefelbusch Institute for Life Span Studies, University of Kansas, Lawrence, KS, USA

Note: [] Corresponding author: Merlin G. Butler, Departments of Psychiatry & Behavioral Sciences and Pediatrics, KS University Medical Center, 3901 Rainbow Blvd, MS 4015, Kansas City, KS 66160, USA. Tel.: +1 913 588 1873; Fax: +1 913 588 1305; E-mail: [email protected].

Keywords: Microarray analysis, 20q13 deletion, intellectual disability, atypical development, dysmorphic features, cleft lip

DOI: 10.3233/PGE-13065

Journal: Journal of Pediatric Genetics, vol. 2, no. 3, pp. 157-161, 2013

Received 15 August 2013
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Revision received 6 September 2013
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Accepted 4 October 2013
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Published: 2013
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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.