Investigation of patients with mental retardation and dysmorphic features using comparative genomic hybridization and subtelomeric multiplex ligation dependent probe amplication [1]

American Journal of Medical Genetics

Volumn 139 A, Issue 3, 2005, Pages 231-233

  Kirchhoff, Maria ^a   Gerdes, Tommy ^a   Brunebjerg, Stine ^a   Bryndorf, Thue ^a  

^a Rigshospitalet   (Denmark)

Author keywords

HR CGH; Mental retardation; MLPA; Subtelomere

Indexed keywords

CALCULATION; COMPARATIVE GENOMIC HYBRIDIZATION; GENE AMPLIFICATION; HUMAN; LETTER; MAJOR CLINICAL STUDY; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT; SEQUENCE ANALYSIS; SUBTELOMERIC MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; FACIAL ASYMMETRY; HUMANS; MENTAL RETARDATION; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; NUCLEIC ACID HYBRIDIZATION; TELOMERE;

EID: 28444457041     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.31019     Document Type: Letter

References (6)

1. Gerdes T, Kirchhoff M, Lind AM, Larsen GV, Schwartz M, Lundsteen C. 2005. Computer-assisted prenatal aneuploidy screeningfor chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 13:171-175.
2. Gerdes T, Kirchhoff M, Bryndorf T. Automatic analysis of multiplex ligation-dependent probe amplification (MLPA) products (exemplified by a commercial kit for prenatal aneuploidy detection). Electrophoresis (in press).
3. Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donohoe PK, Qi Y, Scherer SW, Lee C. 2004. Detection of large-scale variation in the human genome. Nat Genet 36:931-932.
4. Kirchhoff M, Pedersen S, Kjeldsen E, Rose H, Dunø M, Kølvraa S, Lundsteen C. 2004. Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH. Am J Med Genet 127A:111-117.
5. Koolen DA, Nillesen WM, Versteeg MHA, Merkx GFM, Knoers NVAM, Kets M, Vermeer S, van Ravenswaaij CMA, de Kovel CG, Brunner HG, Smeets D, de Vries BBA, Sistermans EA. 2004. Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA). J Med Genet 41:892-899.
6. Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Maner S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M. 2004. Large-scale copy number polymorphism in the human genome. Science 305:525-528.