Journal article
Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion
Journal of pediatric neurology, Vol.7(3), pp.279-283
09/2009
DOI: 10.3233/JPN-2009-0312
Abstract
Abstract
Chromosomal microdeletion syndromes are frequently associated with neurological disease including epilepsy and behavioral abnormalities. Yet, for most microdeletions, neurological phenotypes are variable and the exact molecular cause of neurological disease is not yet understood. Terminal deletions in the long arm of chromosome 2 (2q37.3) are among the most common microdeletion syndromes diagnosed, and have been associated with epilepsy, autistic-like features, short stature, obesity, and brachydactyly type E (short 4th and 5th metacarpals and metatarsals). However, neither epilepsy nor any of the other clinical features are invariant in 2q37.3 deletion. To elucidate the genetic mechanisms underlying this clinical variability we report what is, to our knowledge, the first description of inherited 2q37.3 deletion (without other complex chromosomal rearrangements) in three family members and present two sporadic cases and accompanying chromosomal microarray data. The clinical features of the three familial and two sporadic cases combined with the chromosomal microarray results suggest that all of the clinical features seen in 2q37.3 deletion may be variably expressed.
Details
- Title: Subtitle
- Variability of epilepsy, autism, brachydactyly, and other clinical features in familial and sporadic 2q37.3 deletion
- Creators
- Antony E Shrimpton - Department of Pathology, Upsate Medical University, Syracuse, NY, USAJohn A Kessler - Department of Neurology, Northwestern University, Chicago, IL, USALisa G Shaffer - Signature Genomics Laboratory LLC, Spokane, Washington, DC, USACindy Stack - Department of Pediatrics, Northwestern University, Chicago, IL, USAAli Jalali - Department of Neurology, Northwestern University, Chicago, IL, USARobert Little - Department of Pediatrics, Northwestern University, Chicago, IL, USAJoshua Goldstein - Department of Pediatrics, Northwestern University, Chicago, IL, USABrad Angle - Department of Pediatrics, Northwestern University, Chicago, IL, USAAjit Chary - Department of Pediatrics, Northwestern University, Chicago, IL, USAJustine Coppinger - Signature Genomics Laboratory LLC, Spokane, Washington, DC, USADavid J Mathison - Department of Pediatrics, Children's National Medical Center, Washington, DC, USASophia Khan - Department of Pediatrics, Northwestern University, Chicago, IL, USAAndrew K Poznanski - Department of Medical Imaging, Children's Memorial Hospital, Northwestern University, Chicago, IL, USAWilliam B Dobyns - Department of Genetics, University of Chicago, Chicago, IL, USADavid W Craig - The Translational Genomics Research Institute, Phoenix, AZ, USAJoe J Hoo - Department of Genetics, University of Toledo, Toledo, OH, USADean Sarco - Department of Pediatrics, Harvard University, Boston, MA, USAAlexander G Bassuk - University of Iowa, Department of Pediatrics, Graduate Program in Genetics, Neuroscience and Molecular and Cellular Biology
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric neurology, Vol.7(3), pp.279-283
- Publisher
- Georg Thieme Verlag KG; New York; Stuttgart
- DOI
- 10.3233/JPN-2009-0312
- ISSN
- 1304-2580
- eISSN
- 1305-0613
- Language
- English
- Date published
- 09/2009
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984070621002771
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