Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: Three patients with syringomyelia

European Journal of Human Genetics

Volumn 19, Issue 2, 2011, Pages 152-156

  Schaaf, Christian P ^a   Goin Kochel, Robin P ^a   Nowell, Kerri P ^a   Hunter, Jill V ^a   Aleck, Kirk A ^b   Cox, Sarah ^b   Patel, Ankita ^a   Bacino, Carlos A ^a   Shinawi, Marwan ^c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

16p11.2; chromosomal rearrangements; deletion; developmental delay; duplication; syringomyelia

Indexed keywords

ACADEMIC FAILURE; ADOLESCENT; ARNOLD CHIARI MALFORMATION; ARTICLE; AUTISM; BEHAVIOR DISORDER; CASE REPORT; CENTRAL NERVOUS SYSTEM; CERVICAL SPINE; CHILD; CHROMOSOME 16P; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; HUMAN; LANGUAGE DISABILITY; LEARNING DISORDER; LUMBAR SPINE; MALE; MICROARRAY ANALYSIS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL DUPLICATION; SYRINGOMYELIA; THORACIC SPINE;

ADOLESCENT; ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; AUTISTIC DISORDER; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 16; DEVELOPMENTAL DISABILITIES; HUMANS; LANGUAGE DEVELOPMENT DISORDERS; MALE; PHENOTYPE; SYRINGOMYELIA;

EID: 78651407004     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.168     Document Type: Article

References (12)

1. Weiss LA, Shen Y, Korn JM et al: Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675.
2. Kumar RA, KaraMohamed S, Sudi J et al: Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17: 628-638.
3. McCarthy SE, Makarov V, Kirov G et al: Microduplications of 16p11.2 are associated with schizophrenia. Nat Genet 2009; 41: 1223-1227.
4. Shinawi M, Liu P, Kang SH et al: Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioral problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 2009; 47: 332-341.
5. Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T: A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae. Eur J Med Genet 2009; 52: 433-435.
6. Walters RG, Jacquemont S, Valsesia A et al: A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463: 671-675.
7. Speer MC, Enterline DS, Mehltretter L et al: Type I malformation with or without syringomyelia: prevalence and genetics. J Genet Couns 2003; 12: 297-311.
8. Zakeri A, Glasauer FE, Egnatchik JG: Familial syringomyelia: case report and review of the literature. Surg Neurol 1995; 44: 48-53.
9. Speer MC, Gerge TM, Enterline DS, Franklin A, Wolpert CM, Milhorat TH: A genetic hypothesis for Chiari I malformation with or without syringomyelia. Neurosurg Focus 2000; 8: E12.
10. Boyles AL, Enterline DS, Hammock PH et al: Phenotypic definition of Chiari type I malformation coupled with high-density SNP genome screen shows significant evidence for linkage to regions on chromosomes 9 and 15. Am J Med Genet A 2006; 140: 2776-2785.
11. Ou Z, Kang SH, Shaw CA et al: Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses. Genet Med 2008; 10: 278-289.
12. Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM: Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immunol 2009; 131: 24-30.