Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
Joint Authors
Roberts, Jennifer L.
Butler, Merlin G.
Lu, Ira
Gau, Chia-Ling
Gandomi, Stephanie K.
Dasouki, Majed
Parra, Melissa
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-06-02
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations.
We present a tall-appearing 17-year-old boy with marfanoid habitus, hypermobile joints, mild scoliosis, pectus deformity, widely spaced nipples, pes cavus, autism spectrum disorder, intellectual disability, and psychiatric manifestations including physical and verbal aggression, obsessive-compulsive behaviors, and oppositional defiance.
An echocardiogram showed borderline increased aortic root size.
An abdominal ultrasound revealed a small pancreas, mild splenomegaly with a 1.3 cm accessory splenule, and normal kidneys and liver.
A testing panel for Marfan, aneurysm, and related disorders was negative.
Subsequently, a 400 K array-based comparative genomic hybridization (aCGH) + SNP analysis was performed which identified a de novo suspected pathogenic deletion on chromosome 17q12 encompassing 28 genes.
Despite the limited number of cases described in the literature with 17q12 rearrangements, our proband’s phenotypic features both overlap and expand on previously reported cases.
Since syndrome-specific DNA sequencing studies failed to provide an explanation for this patient’s unusual habitus, we postulate that this case represents an expansion of the 17q12 microdeletion phenotype.
Further analysis of the deleted interval is recommended for new genotype-phenotype correlations.
American Psychological Association (APA)
Roberts, Jennifer L.& Gandomi, Stephanie K.& Parra, Melissa& Lu, Ira& Gau, Chia-Ling& Dasouki, Majed…[et al.]. 2014. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-458693
Modern Language Association (MLA)
Roberts, Jennifer L.…[et al.]. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features. Case Reports in Genetics No. 2014 (2014), pp.1-6.
https://search.emarefa.net/detail/BIM-458693
American Medical Association (AMA)
Roberts, Jennifer L.& Gandomi, Stephanie K.& Parra, Melissa& Lu, Ira& Gau, Chia-Ling& Dasouki, Majed…[et al.]. Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-6.
https://search.emarefa.net/detail/BIM-458693
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-458693