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Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in

Anya Blassnig-Ezeh1, Claude Bandelier, Anne Frühmesser

  • 1Department of Pediatrics, Landeskrankenhaus Feldkirch, Academic Teaching Hospital, Austria.

American Journal of Medical Genetics. Part A
|October 12, 2013
PubMed

Insights

Rare chromosome 2p16→p22 microduplications cause severe growth retardation, developmental delay, and distinct facial features in two patients. A 1.9 Mb region may be responsible for these genetic disorder symptoms.

Area of Science:

  • Genetics
  • Human Molecular Genetics
  • Clinical Genetics

Background:

  • Interstitial duplications of chromosome 2's short arm (2p) are infrequently documented genetic alterations.
  • De novo microduplications in the 2p16→p22 region are identified using SNP-array analysis.

Observation:

  • Two unrelated patients presented with overlapping de novo microduplications on chromosome 2p16→p22.
  • Patient 1: 8-year-old boy with a ~14.6 Mb duplication (63 genes).
  • Patient 2: 12-year-old girl with a ~9.6 Mb duplication (48 genes).

Findings:

  • Both patients exhibited severe growth retardation, delayed bone age, prominent superficial veins, low insulin-like growth factor 1 (IGF1) levels, and mild developmental delay.
  • Facial dysmorphisms included relative macrocephaly, prominent forehead, and large anterior fontanelle.
  • A shared 1.9 Mb region within the duplications is implicated in the observed clinical features.

Implications:

  • The identified 1.9 Mb critical region provides a focus for understanding the genetic basis of these developmental and growth abnormalities.
  • Candidate genes EPAS and RHOQ are hypothesized to play a significant role in the severe growth retardation and developmental delay.
  • Further research into this 2p duplication syndrome can improve diagnostic accuracy and inform potential therapeutic strategies.
Keywords:
chromosomal rearrangementsdelayed bone agegrowth retardationmicroduplication 2p

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