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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.

D Perović1, P Barzegar2, T Damnjanović1

  • 1Institute of Human Genetics, Faculty of Medicine, University of Belgrade, Serbia.

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Chromosomal microarray testing identified copy number variants (CNVs) in 32.65% of small for gestational age children. This molecular karyotyping tool is valuable for diagnosing genetic causes in pediatric patients born small for gestational age.

Keywords:
CNVschromosomal microarraysmall for gestational age

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Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Small for gestational age (SGA) birth is linked to chromosomal abnormalities.
  • Cytogenetic analysis has evolved from karyotyping to microarray technology for higher resolution detection of copy number variants (CNVs).

Purpose of the Study:

  • To evaluate the diagnostic utility of chromosomal microarray (CMA) in identifying clinically significant CNVs in pediatric patients born small for gestational age.

Main Methods:

  • Conducted CMA using Agilent SurePrint G3 Human CGH Microarray 8×60K on 49 pediatric patients (neonatal to 12 years) born small for gestational age.
  • Collected clinical data from genetic specialists and referral questionnaires.

Main Results:

  • Clinically significant CNVs were detected in 16 out of 49 patients (32.65%), including deletions and duplications.
  • Ten cases involved recurrent microdeletion/microduplication syndromes (e.g., Williams syndrome), while six had rare CNVs.
  • No significant difference in intellectual disabilities or malformations was observed between patients with and without csCNVs.

Conclusions:

  • Chromosomal microarray is an effective diagnostic tool for identifying the etiology of genetic disorders in children born small for gestational age.
  • CMA offers higher resolution than karyotyping for detecting sub-microscopic CNVs associated with SGA.