PMID- 30202443
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220331
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 11
DP  - 2018
TI  - Familiar unbalanced complex rearrangements involving 13 p-arm: description of two 
      cases.
PG  - 52
LID - 10.1186/s13039-018-0400-6 [doi]
LID - 52
AB  - 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.
FAU - Conconi, Donatella
AU  - Conconi D
AD  - 1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy. 
      ISNI: 0000 0001 2174 1754. GRID: grid.7563.7
FAU - Villa, Nicoletta
AU  - Villa N
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
FAU - Redaelli, Serena
AU  - Redaelli S
AD  - 1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy. 
      ISNI: 0000 0001 2174 1754. GRID: grid.7563.7
FAU - Sala, Elena
AU  - Sala E
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
FAU - Crosti, Francesca
AU  - Crosti F
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
FAU - Maitz, Silva
AU  - Maitz S
AD  - 3Pediatric Genetic Unit, Pediatric Department of Monza Brianza per il Bambino e 
      la sua Mamma (MBBM) Foundation, San Gerardo Hospital, Monza, Italy. ISNI: 0000 
      0004 1756 8604. GRID: grid.415025.7
FAU - Rigoldi, Miriam
AU  - Rigoldi M
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
FAU - Parini, Rossella
AU  - Parini R
AD  - 4Pediatric Department of Monza Brianza per il Bambino e la sua Mamma (MBBM) 
      Foundation, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 1756 8604. GRID: 
      grid.415025.7
FAU - Dalpra, Leda
AU  - Dalpra L
AD  - 1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy. 
      ISNI: 0000 0001 2174 1754. GRID: grid.7563.7
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
FAU - Lavitrano, Marialuisa
AU  - Lavitrano M
AD  - 1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy. 
      ISNI: 0000 0001 2174 1754. GRID: grid.7563.7
FAU - Roversi, Gaia
AU  - Roversi G
AD  - 1School of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy. 
      ISNI: 0000 0001 2174 1754. GRID: grid.7563.7
AD  - 2Medical Genetics Laboratory, San Gerardo Hospital, Monza, Italy. ISNI: 0000 0004 
      1756 8604. GRID: grid.415025.7
LA  - eng
PT  - Case Reports
DEP - 20180906
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6127936
OTO - NOTNLM
OT  - Array-CGH
OT  - Chromosome 13 p arm
OT  - Copy number variations
OT  - FISH
OT  - Unbalanced translocation
COIS- Not applicable.Written informed consent was obtained from the patient's parents 
      for publication of this case report and any accompanying images.The authors 
      declare that they have no competing interests.Springer Nature remains neutral 
      with regard to jurisdictional claims in published maps and institutional 
      affiliations.
EDAT- 2018/09/12 06:00
MHDA- 2018/09/12 06:01
PMCR- 2018/09/06
CRDT- 2018/09/12 06:00
PHST- 2018/06/04 00:00 [received]
PHST- 2018/08/29 00:00 [accepted]
PHST- 2018/09/12 06:00 [entrez]
PHST- 2018/09/12 06:00 [pubmed]
PHST- 2018/09/12 06:01 [medline]
PHST- 2018/09/06 00:00 [pmc-release]
AID - 400 [pii]
AID - 10.1186/s13039-018-0400-6 [doi]
PST - epublish
SO  - Mol Cytogenet. 2018 Sep 6;11:52. doi: 10.1186/s13039-018-0400-6. eCollection 
      2018.