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3q29 microdeletion syndrome
Monday 6 June 2005
Synopsis
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
References
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