PMID- 32760450
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220416
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 13
DP  - 2020
TI  - 13q deletion syndrome resulting from balanced chromosomal rearrangement in 
      father: the significance of parental karyotyping.
PG  - 31
LID - 10.1186/s13039-020-00500-7 [doi]
LID - 31
AB  - BACKGROUND: Retinoblastoma is a malignancy of the eye in children characterized 
      by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at 
      chromosome 13q14.2. Children with interstitial chromosome 13q deletions that 
      include the RB1 gene show a predisposition to develop retinoblastoma and variable 
      other features. Large 13q deletions with severe clinical phenotype are nearly 
      always the result of a de novo mutation, i.e. the pathogenic alteration is not 
      detected in parents. This results in a low risk for siblings to develop 13q 
      deletion syndrome. RESULT: Here, we describe a patient with profound muscle 
      hypotonia, severe developmental delay and bilateral retinoblastoma carrying a 
      large deletion in 13q13.3q14 with the size of 16 Mb, involving the RB1 gene. 
      Neither parent showed retinoblastoma, muscle hypotonia or developmental delay. 
      Chromosome analysis and Fluorescence in situ hybridization (FISH) showed a 
      balanced complex chromosomal rearrangement (CCR) between chromosome 12 and 13 
      [ins(12;13)(q21.2;q12.3q14.3)] and an additional balanced translocation of 
      chromosome 7 and 15 [t(7;15)(q31.2;q25.3)] in the healthy father. Malsegregation 
      of the paternal insertional translocation involving chromosome 12 and 13 resulted 
      in a 13q deletion syndrome of the child [46,XY,ins(12;13)(q21.2;q12.3q14.3)]. 
      CONCLUSION: Balanced translocations in parents are a rare cause of de novo RB1 
      deletions in offspring. This case report emphasizes the need for parental 
      chromosomal analysis and FISH in parents of children diagnosed with 13q deletion 
      syndrome or large RB1 gene deletions to precisely determine the recurrence risk 
      in siblings. Guidelines for genetic testing should be revised accordingly.
CI  - (c) The Author(s) 2020.
FAU - Dittner-Moormann, Sabine
AU  - Dittner-Moormann S
AD  - Department of Pediatric Hematology and Oncology, University Hospital Essen, 
      Hufelandstrasse 55, 45147 Essen, Germany. GRID: grid.410718.b. ISNI: 0000 0001 
      0262 7331
FAU - Reschke, Madlen
AU  - Reschke M
AD  - Department of Pediatric Hematology, Oncology and Stem Cell Transplantation, 
      Charite - Universitatsmedizin Berlin, Berlin, Germany. GRID: grid.6363.0. ISNI: 
      0000 0001 2218 4662
FAU - Biewald, Eva
AU  - Biewald E
AD  - Department of Ophthalmology, University Hospital Essen, Essen, Germany. GRID: 
      grid.410718.b. ISNI: 0000 0001 0262 7331
FAU - Kuechler, Alma
AU  - Kuechler A
AD  - Institute of Human Genetics, University Hospital Essen, Essen, Germany. GRID: 
      grid.410718.b. ISNI: 0000 0001 0262 7331
FAU - Klein, Barbara
AU  - Klein B
AD  - Sozialpadiatrisches Zentrum, Klinikum Frankfurt Hochst GmbH, Frankfurt a. M, 
      Germany. GRID: grid.492781.1
FAU - Timmermann, Beate
AU  - Timmermann B
AD  - Department of Particle Therapy, West German Proton Therapy Centre Essen (WPE), 
      West German Cancer Center (WTZ), German Cancer Consortium (DKTK), University 
      Hospital Essen, Essen, Germany. GRID: grid.410718.b. ISNI: 0000 0001 0262 7331
FAU - Lohmann, Dietmar
AU  - Lohmann D
AD  - Institute of Human Genetics, University Hospital Essen, Essen, Germany. GRID: 
      grid.410718.b. ISNI: 0000 0001 0262 7331
FAU - Ketteler, Petra
AU  - Ketteler P
AD  - Department of Pediatric Hematology and Oncology, University Hospital Essen, 
      Hufelandstrasse 55, 45147 Essen, Germany. GRID: grid.410718.b. ISNI: 0000 0001 
      0262 7331
FAU - Kanber, Deniz
AU  - Kanber D
AD  - Institute of Human Genetics, University Hospital Essen, Essen, Germany. GRID: 
      grid.410718.b. ISNI: 0000 0001 0262 7331
LA  - eng
PT  - Case Reports
DEP - 20200723
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC7379829
OTO - NOTNLM
OT  - 13q deletion
OT  - Balanced translocation
OT  - Complex chromosomal rearrangement
OT  - Retinoblastoma
COIS- Competing interestsThe authors declare no conflict of interest.
EDAT- 2020/08/08 06:00
MHDA- 2020/08/08 06:01
PMCR- 2020/07/23
CRDT- 2020/08/08 06:00
PHST- 2020/05/06 00:00 [received]
PHST- 2020/06/30 00:00 [accepted]
PHST- 2020/08/08 06:00 [entrez]
PHST- 2020/08/08 06:00 [pubmed]
PHST- 2020/08/08 06:01 [medline]
PHST- 2020/07/23 00:00 [pmc-release]
AID - 500 [pii]
AID - 10.1186/s13039-020-00500-7 [doi]
PST - epublish
SO  - Mol Cytogenet. 2020 Jul 23;13:31. doi: 10.1186/s13039-020-00500-7. eCollection 
      2020.