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Updated: Apr 17, 2026

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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17q12 microduplications: a challenge for clinicians.

V Bertini1, A Orsini, A Bonuccelli

  • 1Cytogenetics and Molecular Genetics Unit, Children Department, AOUP, Pisa, Italy.

American Journal of Medical Genetics. Part A
|February 19, 2015
PubMed
Summary
This summary is machine-generated.

17q12 microduplications present a wide range of clinical symptoms, making syndrome classification difficult. Even with the same genetic anomaly, common characteristics are hard to identify across affected individuals.

Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Dysmorphology

Background:

Keywords:
17q12 duplicationarray CGHintellectual disability

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  • 17q12 deletions and duplications are increasingly reported, but their clinical significance remains unclear.
  • 17q12 duplications are challenging to classify due to a broad spectrum of associated phenotypes, from mild to severe.
  • The specific genes within the 17q12 region and their contribution to phenotypic variability are not fully understood.