[A microdeletion of chromosome 9q34.11 may cause suspected cerebral palsy]

To identify the genetic cause for a child with mental retardation and dyskinesia.

After the routine genetic counseling for the child and the core family members, conventional peripheral blood karyotyping with G-banding and tandem mass spectrometry were applied to find the common genetic problems. Array-comparative genomic hybridization (aCGH) based on the whole genome level was performed to detect minor chromosomal structural abnormalities and the result was confirmed by multiplex ligation dependent probe amplification (MLPA).

The proband's karyotype was normal. There were not obvious abnormalities for the testing of 26 types of congenital metabolic diseases. A -2.11 Mb microdeletion of chromosome 9q34.11 region was found though aCGH, which including SPTAN1, TOR1A and other nearly 50 genes related to mental retardation, early infantile spasms, epileptic encephalopathy, myelin dysplasia and dystonia. The -2.11 Mb chromosomal microdeletion was identified by MLPA.

The 2.11 Mb microdeletion of chromosome 9q34.11 region may lead to suspected cerebral palsy. Cytogenetic methods combined with MLPA and aCGH can efficiently identify genetic etiology and provide accurate results for clinical diagnosis.