期刊论文详细信息
BMC Medical Genetics
A 5.8 Mb interstitial deletion on chromosome Xq21.1 in a boy with intellectual disability, cleft palate, hearing impairment and combined growth hormone deficiency
M. Bozzola2  E. Bozzola1  I. Fusco3  C. Meazza2  S. Pagani2  C. Gertosio4  M. Giordano3 
[1]Department of Pediatric Medicine, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy
[2]Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
[3]Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Via Solaroli 17, Novara, 28100, Italy
[4]Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia, Italy
关键词: Intellectual disability;    Pituitary hormone deficiency;    Short stature;    Xq21.1 deletion;   
Others  :  1223131
DOI  :  10.1186/s12881-015-0220-z
 received in 2015-03-02, accepted in 2015-08-19, published in 16
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【 摘 要 】

Background

Deletions of the long arm of chromosome X in males are a rare cause of X-linked intellectual disability. Here we describe a patient with an interstitial deletion of the Xq21.1 chromosome.

Case presentation

In a 15 year boy, showing intellectual disability, short stature, hearing loss and dysmorphic facial features, a deletion at Xq21.1 was identified by array-CGH. This maternally inherited 5.8 Mb rearrangement encompasses 14 genes, including BRWD3 (involved in X-linked intellectual disability), TBX22 (a gene whose alterations have been related to the presence of cleft palate), POU3F4 (mutated in X-linked deafness) and ITM2A (a gene involved in cartilage development).

Conclusion

Correlation between the clinical findings and the function of gene mapping within the deleted region confirms the causative role of this microrearrangement in our patient and provides new insight into a gene possibly involved in short stature.

【 授权许可】

   
2015 Giordano et al.

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