title: [Multiplex Ligation - dependent Probe Amplification (MLPA) as a screening test in children with developmental defects and intellectual disability of unknown etiology].
abstract: Developmental delay and intellectual disability are significant medical and social problems which concern 1-3% of population. The etiology remains unknown in over half of the cases.
  
  
  OBJECTIVE
  To evaluate the efficiency of MLPA (Multiplex Ligation-dependent Probe Amplification) as a screening test in diagnosis of patients with developmental delay and/or intellectual disability.
  
  
  METHODS
  313 MLPA tests were performed in 256 patients with developmental delay and/ or intellectual disability with unknown etiology. MLPA test was made after exclusion of genetic disorders possible to diagnose by dysmorphological examination or using specifi c genetic tests. Positive results were confirmed by FISH analysis with appropriate probes.
  
  
  RESULTS
  Chromosomal microaberrations were identifi ed in 15 patients (4,8%): deletions of 1p36 in 4 cases, in one case deletion of 22q11.21, 22q13.33, SNRPN1, 4ptel, 6qtel, 7q11.23, 16ptel, 18qtel as well as one ca se of deletion 3ptel/duplication 15qtel; deletion 18qtel/duplication Xqtel, and also duplication 7q11.23. Detail clinical analysis was performed in patients with diagnosed microaberrations in MLPA test.
  
  
  CONCLUSIONS
  The molecular MLPA test, screening for chromosomal microaberration syndromes, should be performed in each patient with developmental delay and/or intellectual disability of unknown etiology and normal cytogenetic analysis, even if congenital defects and positive familial history do not exist.
authors: Katedra i Zakład Genetyki AM, ul. Marcinkowskiego 1, 50-368 Wrocław. lacz@gen.am.wroc.pl
authors: Izabela
authors: I
authors: Laczmańska
authors: Aleksandra
authors: A
authors: Jakubiak
authors: Ryszard
authors: R
authors: Slęzak
authors: Karolina
authors: K
authors: Pesz
authors: Agnieszka
authors: A
authors: Stembalska
authors: Lukasz
authors: L
authors: Laczmański
authors: Maria M
authors: MM
authors: Sąsiadek
authors: Robert
authors: R
authors: Smigiel
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D005820:Genetic Testing / Q000295:instrumentation* / Q000379:methods; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D055815:Young Adult