PMID- 35620252
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220716
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Electronic)
IS  - 2090-6552 (Linking)
VI  - 2022
DP  - 2022
TI  - Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding.
PG  - 7510079
LID - 10.1155/2022/7510079 [doi]
LID - 7510079
AB  - This case discusses a now 13-year-old boy who underwent chromosome analysis and 
      fluorescence in situ hybridization (FISH) for subtelomeric rearrangements due to 
      dysmorphic features at birth. This testing revealed a diagnosis of an unbalanced 
      7;9 translocation resulting in monosomy for 7q34-qter and trisomy for 9pter-p21, 
      which resulted in a very complex medical course. At the age of 12, due to 
      persistent complex neurodevelopmental concerns, the patient was referred by 
      neurology for whole-exome sequencing. This testing revealed an incidental 
      pathogenic heterozygous KCNH2 deletion, which is associated with long QT-syndrome 
      type II. Prior to this point, the patient had no symptoms of long QT syndrome and 
      had multiple EKGs with normal QT intervals. However, due to this association, the 
      patient underwent Holter monitoring, which revealed clinical evidence of long-QT 
      syndrome type II. Preventative treatment was then initiated and the patient 
      remains asymptomatic. This case expands on the phenotype of this patient's 
      unbalanced 7;9 translocation as well as highlights the importance of secondary 
      findings in genetic testing.
CI  - Copyright (c) 2022 Julie Fischer and Luis Rohena.
FAU - Fischer, Julie
AU  - Fischer J
AUID- ORCID: 0000-0002-1985-7501
AD  - Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.
FAU - Rohena, Luis
AU  - Rohena L
AUID- ORCID: 0000-0002-1593-6712
AD  - Division of Medical Genetics, Department of Pediatrics, Brooke Army Medical 
      Center, Fort Sam Houston, TX, USA.
AD  - Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San 
      Antonio, TX, USA.
LA  - eng
PT  - Case Reports
DEP - 20220517
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC9130017
COIS- The authors declare no potential conflicts of interest.
EDAT- 2022/05/28 06:00
MHDA- 2022/05/28 06:01
PMCR- 2022/05/17
CRDT- 2022/05/27 02:25
PHST- 2022/02/03 00:00 [received]
PHST- 2022/04/15 00:00 [accepted]
PHST- 2022/05/27 02:25 [entrez]
PHST- 2022/05/28 06:00 [pubmed]
PHST- 2022/05/28 06:01 [medline]
PHST- 2022/05/17 00:00 [pmc-release]
AID - 10.1155/2022/7510079 [doi]
PST - epublish
SO  - Case Rep Genet. 2022 May 17;2022:7510079. doi: 10.1155/2022/7510079. eCollection 
      2022.