1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly, minor facial anomalies but no growth retardation

Molecular Cytogenetics

Zheng-feng Xu²  Long Yi¹  Ding-yuan Ma²  Ling Qin²  Lu-lu Meng²  Yan Wang²  Ping Hu² 

[1] Department of Pathology, Nanjing University Medical School, Nanjing 210093, PR China;State key Laboratory of Reproductive Medicine, Department of Prenatal Diagnosis, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, 123 Tianfei Street, Nanjing 210029, China

关键词: Growth retardation;    Mental retardation;    SNP-array;    Interstitial 1q deletion;   

Others  :  1150892
DOI  :  10.1186/1755-8166-6-30

 received in 2013-02-07, accepted in 2013-06-17,  发布年份 2013

【 摘 要 】

The reports of 1q25-32 deletion cases are rare. We reported here an 11-year-old Chinese Han female with an interstitial 1q25 deletion displaying mental retardation, clinodactyly of the 5th finger and minor facial anomalies. Notably, the patient did not present growth retardation which is quite common in patients with 1q25-32 deletion encompassing LHX4. The heterozygous deletion in this patient was characterized as 46,XX,del(1)(q25.2-q31.3) with a length of 20.5 Mb according to SNP-array test results. STRP (Short Tandem Repeat Polymorphism) analysis of the family trio indicated the genomic abnormality was de novo with paternal origin. After a genotype-phenotype analysis, we proposed here the loss of a 3.1 Mb critical region including 24 genes within 1q25.2 (chr1:174.5-177.6 Mb, build 36) may account for the mental retardation in patients with 1q25-32 deletion.

【 授权许可】

   
2013 Hu et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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