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3q29 microdeletion syndrome

Monday 6 June 2005


- mild-to-moderate mental retardation
- slightly dysmorphic facial features

  • long and narrow face
  • short philtrum
  • high nasal bridge
  • autism
  • gait ataxia
  • chest-wall deformity
  • long and tapering fingers

- microcephaly
- cleft lip and palate
- horseshoe kidney
- hypospadias
- ligamentous laxity
- recurrent middle ear infections
- abnormal pigmentation

Genes involved

- The deletion encompasses 22 genes, including

  • PAK2
  • DLG1


- Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, Fitzpatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am J Hum Genet. 2005 Jul;77(1):154-60. PMID: 15918153