Findings from ACGH in patient with psychomotor delay-case report

  • Vanja Vidović University of Banja Luka, Faculty of Medicine, Deparmtent of Human Genetics, Banja Luka, Bosnia and Herzegovina
  • Nela Maksimović University of Belgrade, Faculty of Medicine, Institute of Human Genetics, Belgrade, Serbia
  • Tatjana Damnjanović University of Belgrade, Faculty of Medicine, Institute of Human Genetics, Belgrade, Serbia
  • Biljana Jekić University of Belgrade, Faculty of Medicine, Institute of Human Genetics, Belgrade, Serbia
  • Irina Milovac University of Banja Luka, Faculty of Medicine, Deparmtent of Human Genetics, Banja Luka, Bosnia and Herzegovina
  • Milka Grk University of Belgrade, Faculty of Medicine, Institute of Human Genetics, Belgrade, Serbia
  • Stojko Vidović University of Banja Luka, Faculty of Medicine, Deparmtent of Human Genetics, Banja Luka, Bosnia and Herzegovina

Abstract

Initial testing of children with psychomotor delays considers karyotype analysis   and   metabolic   tests.   However,   introduction of Array Comparative Genomic Hybridization (ACGH) has become the standard method of diagnostics worldwide. ACGH is a highly  sensitive  method  which  enables  detection  of  unbalanced  chromosomal  aberrations and  aneuploidies.  In  this  case  report,  a  patient  is  a  sixteen  year  old  girl  born  to  unrelated parents  with  mild  mental  retardation  and  psychomotor  delay, hyperacusis,  epilepsy,  silent nasal speech, clinodactyly of the V finger on left hand, as well as low set ears. Patient had a karyotype interpreted as normal using GTG band analysis.  Array  CGH  was  performed  using Agilent SurePrint  G3 custom  CGH+SNP  Microarray  8x60K  (UCSC,  hg19,  NCBI  Build  37, February,2009).  Results were analyzed by CytoGenomics 3.0 Agilent software.  Results of  aCGH  revealed  clinically  significant  duplication  of  17q25.1-q25.3  region  with  the  size  of~7.96Mb. Within the duplicated region 217 genes are present, of which 36 are described as OMIM morbid.  Duplications  of  similar  size  are  described  in  DECIPHER  date  base  in  patients with  psychomotor  delay,  hyperactivity  and  neoplasm  of  CNS.  Besides duplication, a ~755kb clinically significant deletion was detected in the 17q25.3 region. Deletion involves 18 genes of which 2 are described as OMIM morbid: TBCD (MIM604649) and ZNF750 (MIM610226). Patient with similar deletion was described in DECIPHER date base with notable psychomotor delay.  Based  on  these  results  FISH  analysis  is  recommended  for  both  parents  in  order  to determine the possible carrier  of inversion in the region of 17qter.

Published
2019-12-24
How to Cite
VIDOVIĆ, Vanja et al. Findings from ACGH in patient with psychomotor delay-case report. Genetics & Applications, [S.l.], v. 3, n. 3, p. 38-41, dec. 2019. ISSN 2566-431X. Available at: <http://www.genapp.ba/index.php/genapp/article/view/106>. Date accessed: 31 may 2020. doi: https://doi.org/10.31383/ga.vol3iss3pp38-41.
Section
Short communications