Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements

European Journal of Medical Genetics

Volumn 51, Issue 2, 2008, Pages 93-105

  Stegmann, A P A ^a   Jonker, L M H ^a   Engelen, J J M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Cryptic unbalanced chromosomal rearrangements; Mental retardation; MLPA; Molecular karyotyping

Indexed keywords

ADOLESCENT; ADULT; ANALYTIC METHOD; ARTICLE; CHILD; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC PROCEDURE; FEMALE; GENE TRANSLOCATION; GENETIC SCREENING; HUMAN; KARYOTYPING; LABORATORY DIAGNOSIS; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PRADER WILLI SYNDROME; PROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SUBTELOMERIC MULTIPLEX LIGATION DEPENDANT PROBE AMPLIFICATION;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, NEWBORN; KARYOTYPING; LIGASE CHAIN REACTION; MALE; MENTAL RETARDATION; MOLECULAR PROBE TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PROSPECTIVE STUDIES; TELOMERE; TRANSLOCATION, GENETIC;

EID: 40649112630     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.10.003     Document Type: Article

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