Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features
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 habi...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2014/264947 |
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| author | Jennifer L. Roberts Stephanie K. Gandomi Melissa Parra Ira Lu Chia-Ling Gau Majed Dasouki Merlin G. Butler |
| author_facet | Jennifer L. Roberts Stephanie K. Gandomi Melissa Parra Ira Lu Chia-Ling Gau Majed Dasouki Merlin G. Butler |
| author_sort | Jennifer L. Roberts |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-ac152e4f8d8d4a5dbdb4bb25e4c94422 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
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| series | Case Reports in Genetics |
| spelling | doaj-art-ac152e4f8d8d4a5dbdb4bb25e4c944222025-02-03T06:06:24ZengWileyCase Reports in Genetics2090-65442090-65522014-01-01201410.1155/2014/264947264947Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical FeaturesJennifer L. Roberts0Stephanie K. Gandomi1Melissa Parra2Ira Lu3Chia-Ling Gau4Majed Dasouki5Merlin G. Butler6The University of Kansas Medical Center, Kansas City, KS 66160, USAAmbry Genetics, Aliso Viejo, CA 92656, USAAmbry Genetics, Aliso Viejo, CA 92656, USAAmbry Genetics, Aliso Viejo, CA 92656, USAAmbry Genetics, Aliso Viejo, CA 92656, USAThe University of Kansas Medical Center, Kansas City, KS 66160, USAThe University of Kansas Medical Center, Kansas City, KS 66160, USACopy 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.http://dx.doi.org/10.1155/2014/264947 |
| spellingShingle | Jennifer L. Roberts Stephanie K. Gandomi Melissa Parra Ira Lu Chia-Ling Gau Majed Dasouki Merlin G. Butler Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features Case Reports in Genetics |
| title | Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features |
| title_full | Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features |
| title_fullStr | Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features |
| title_full_unstemmed | Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features |
| title_short | Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features |
| title_sort | clinical report of a 17q12 microdeletion with additionally unreported clinical features |
| url | http://dx.doi.org/10.1155/2014/264947 |
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