Interstitial 11q deletion: genomic characterization and neuropsychiatric follow up from early infancy to adolescence and literature review

BMC Research Notes

Francesca Neri¹  Leda Dalprಠ Angelo Selicorni⁴  Agnese Scatigno⁴  Patrizia Stoppa¹  Monica Bomba¹  Fiorenza Broggi¹  Serena Redaelli³  Nicoletta Villa²  Renata Nacinovich¹ 

[1] Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, Monza, Italy;Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy;Department of Surgery and Translational Medicine, University of Milan-Bicocca, Monza, Italy;Ambulatorio Genetica Clinica Pediatrica, Clinica Pediatrica Università Milano Bicocca, Fondazione MBBM AO S, Gerardo Monza, Italy

关键词: Rehabilitation programme;    Follow up;    Genotype-phenotype correlation;    Array CGH;    Chromosome 11q deletion;   

Others  :  1133429
DOI  :  10.1186/1756-0500-7-248

 received in 2013-07-11, accepted in 2014-03-28,  发布年份 2014

【 摘 要 】

Background

Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases.

Case Presentation

We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level.

Conclusions

This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.

【 授权许可】

   
2014 Nacinovich et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

Figure 2.

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