3p deletion syndrome

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

3p deletion syndrome. Low birth weight, Hypotonia, Microcephaly, Trigonocephaly, Developmental delay. Fully referenced neurology checklist.

Developmental features

  • Low birth weight
  • Hypotonia
  • Microcephaly
  • Trigonocephaly
  • Developmental delay
  • Growth retardation

Neurological features

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Skeletal features

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Systemic features

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References

  1. Kaur A, Khetarpal S. 3p deletion syndrome. Indian Pediatr 2013; 50:795-796.
  2. Kuechler A, Zink AM, Wieland T, et al. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur J Hum Genet 2015; 23:753-760.

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