Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

Molecular Cytogenetics

Miriam Rigoldi¹  Nicoletta Villa¹  Francesca Crosti¹  Elena Sala¹  Rossella Parini²  Silva Maitz³  Serena Redaelli⁴  Marialuisa Lavitrano⁴  Gaia Roversi⁴  Donatella Conconi⁴  Leda Dalprà⁴ 

[1] Medical Genetics Laboratory, San Gerardo Hospital;Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital;Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital;School of Medicine and Surgery, University of Milano-Bicocca;

关键词: Copy number variations;    Chromosome 13 p arm;    Unbalanced translocation;    FISH;    Array-CGH;   

DOI  :  10.1186/s13039-018-0400-6

来源: DOAJ

【 摘 要 】

Abstract Background Copy number variations (CNVs) are largely known today, but their position is rarely established by fluorescence in situ hybridization (FISH) or karyotype analysis. Case presentation We described two families with copy number gain in which FISH analysis with the specific subtelomeric probe of chromosome 4q and 7q evidenced a third signal at band 13p11.2. Genomic study by array comparative genomic hybridization defined the triple dose segment. In the first case, the duplicate tract is free of known genes, in the second one it contained three expressed genes. Conclusions The CNV localization on the short arm of an acrocentric chromosome could explain the lack of phenotypic effect, being known the regulatory role of heterochromatin in the position-effect silencing. Furthermore, we would like to underline the importance of using complementary techniques such as FISH and array-CGH to obtain a better definition of genomic rearrangements.

【 授权许可】

Unknown