Retrospective karyotype study in mentally retarded patients.

OBJECTIVE To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. METHOD A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. RESULTS 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. CONCLUSION Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

• Publication year

  2016

• Venue

  Revista da Associação Médica Brasileira

• Publication date

  2016-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1590/1806-9282.62.03.262PMID 27310551
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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