Genetic study of one patient with autism

YANG Yao; WANG Fang; WANG Chun-zhi; HE Xi-yu

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Chinese Journal of Child Health Care ›› 2012, Vol. 20 ›› Issue (10) : 893-895.

Genetic study of one patient with autism

YANG Yao,WANG Fang,WANG Chun-zhi,HE Xi-yu

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Abstract

【Objective】 To analyze the genetic mechanism of the patient with autism. 【Methods】 G-banding karyotype analysis,Multiplex ligation dependent probe amplification (MLPA),single nucleotide polymorphism-based genotyping microarray (SNP array) and short tandem repeat (STR) were integrated and used to analyze the genetic verification of the patient with autism. 【Results】 A 5-year-old girl presented with autism was described.Conventional karyotyping revealed a novel translocation t(11;9)(p15;p24).The karyotype was described as 45,XX,psu dic(11;9)(p15;p24).SNP array analysis identified a 8M heterozygosis deletion from 9p24.3 to 9p24.1,5M homozygous deletion from 9p24.1 to 9p23 and 12.5M duplication from 9p23 to 9p21.2.STR analysis showed the paternal origin of the deleted region of chromosome 9. 【Conclusions】 The deletion and duplication of 9p were associated with autism and mental retardation.SNP array can improve the diagnosis of autism.

Key words

autism / genenic pathogenesis / array-based compararive genomic hybridization / copy number variation

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YANG Yao,WANG Fang,WANG Chun-zhi,HE Xi-yu. Genetic study of one patient with autism[J]. Chinese Journal of Child Health Care. 2012, 20(10): 893-895

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