Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 8, 2012, Pages 1832-1836

  Zeesman, Susan ^a   Kjaergaard, Susanne ^b   Hove, Hanne D ^b   Kirchhoff, Maria ^b   Stevens, Jadd M ^c   Nowaczyk, Malgorzata J M ^a  

^a MCMASTER UNIVERSITY   (Canada)

^b Rigshospitalet   (Denmark)

^c UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

Author keywords

17p13.1; Microcephaly; Microdeletion

Indexed keywords

ARTICLE; BODY POSTURE; CASE REPORT; CHILD; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EAR MALFORMATION; ELBOW FLEXION; FACE DYSMORPHIA; FEMALE; GENE IDENTIFICATION; GENETIC ASSOCIATION; HAND MALFORMATION; HUMAN; INTELLECTUAL IMPAIRMENT; JOINT LAXITY; KARYOTYPING; KNEE FUNCTION; MALE; MALOCCLUSION; MICROCEPHALY; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RETROGNATHIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 17; DNA PRIMERS; FACIES; FEMALE; GENE DELETION; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; PHENOTYPE; REAL-TIME POLYMERASE CHAIN REACTION;

EID: 84864125043     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35508     Document Type: Article

References (10)

1. Adam MP, Justice AN, Schelley S, Kwan A, Hudgins L, Martin CL. 2009. Clinical utility of array comparative genomic hybridization: Uncovering tumor susceptibility in individuals with developmental delay. J Pediatr 154: 143-146.
2. Fujita PA, Rhead B, Zweig AS, Hinrichs AS, Karolchik D, Cline MS, Goldman M, Barber GP, Clawson H, Coelho A, Diekhans M, Dreszer TR, Giardine BM, Harte RA, Hillman-Jackson J, Hsu F, Kirkup V, Kuhn RM, Learned K, Li CH, Meyer LR, Pohl A, Raney BJ, Rosenbloom KR, Smith KE, Haussler D, Kent WJ. 2011. The UCSC Genome Brower database; update 2011. Nucleic Acid Research Accessed November 24, 2011. [Epub ahead of print].
3. Krepischi-Santos ACV, Rajan D, Temple IK, Shrubb V, Crolla JA, Huang S, Beal S, Otto PA, Carter NP, Vianna-Morgante AM, Rosenberg C. 2009. Constitutional haploinsufficiency of tumor suppressor genes in mentally retarded patients with microdeletions in 17p13.1. Cytogenet Genome Res 125: 1-7.
4. Leil TA, Chen ZW, Chang CS, Olsen RW. 2004. GABAA receptor-associated protein traffics GABAA receptors to the plasma membrane in neurons. J Neurosci 24: 11429-11438.
5. Roos L, Jønch AE, Kjaergaard S, Taudorf K, Simonsen H, Hamborg-Petersen B, Brøndum-Nielsen K, Kirchhoff M. 2009. A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. J Med Genet 46: 703-710.
6. Satow R, Kurisaki A, Chan TC, Hamazaki TS, Asashima M. 2006. Dullard promotes degradation and dephosphorylation of BMP receptors and is required for neural induction. Dev Cell 11: 763-774.
7. Schluth-Bolard C, Sanlaville D, Labalme A, Till M, Morin I, Touraine R, Edery P. 2009. 17p13.1 microdeletion involving the TP53 gene in a boy presenting with mental retardation but no tumor. Am J Med Genet Part A 152A: 1278-1282.
8. Schwarzbraun T, Obenauf AC, Langmann A, Gruber-Sedlmayr U, Wagner K, Speicher MR, Kroisel PM. 2009. Predictive diagnosis of the cancer-prone Li-Fraumeni syndrome by accident: New challenges through whole genome array testing. J Med Genet 46: 341-344.
9. Shlien A, Baskin B, Achatz MIW, Stavropoulos DJ, Nichols KE, Hudgins L, Morel CF, Adam MP, Zhukova N, Rotin L, Novokmet A, Druker H, Shago M, Ray PN, Hainaut P, Malkin D. 2010. A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes. Am J Hum Genet 87: 631-642.
10. Stathakis DG, Udar N, Sandgren O, Andreasson S, Bryant PJ, Small K, Forsman-Semb K. 1999. Genomic organization of human DLG4, the gene encoding postsynaptic density 95. J Neurochem 73: 2250-2265.