PMID- 33297534
OWN - NLM
STAT- MEDLINE
DCOM- 20210721
LR  - 20210721
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 11
IP  - 12
DP  - 2020 Dec 7
TI  - Unusual Longevity of Edwards Syndrome: A Case Report.
LID - 10.3390/genes11121466 [doi]
LID - 1466
AB  - BACKGROUND: Trisomy 18, also known as Edwards syndrome, was first described in 
      the 1960s and is now defined as the second most common trisomy. While this 
      genetic disease has been attributed to nondisjunction during meiosis, the exact 
      mechanism remains unknown. Trisomy 18 is associated with a significantly 
      increased mortality rate of about 5-10% of patients surviving until 1 year of 
      age. We present a case of a 26-year-old female diagnosed with trisomy 18, well 
      outliving her life expectancy, maintaining a stable state of health. CASE 
      PRESENTATION: A 26-year-old female with non-mosaic Edwards syndrome presented to 
      the clinic for follow up after recent hospitalization for aspiration pneumonia. 
      The definitive diagnosis of trisomy 18 was made prenatally utilizing chromosomal 
      analysis and G-banding and fluorescence in situ hybridization (FISH) on cells 
      obtained via amniocentesis. Her past medical history is characterized by severe 
      growth and intellectual limitations; recurrent history of infections, especially 
      respiratory system infections; and a ventricular septal defect (VSD) that was 
      never surgically repaired. She remains in good, stable health and is under close 
      follow-up and monitoring. CONCLUSIONS: Despite the fact that Edwards syndrome 
      carries a significantly high mortality rate due to several comorbidities, recent 
      literature including this case report has identified patients surviving into 
      adulthood. Advancements in early detection and parent education have likely 
      allowed for these findings. We aim to present a case of an adult with trisomy 18, 
      living in stable condition, with an importance on medical follow-up.
FAU - Alshami, Abbas
AU  - Alshami A
AUID- ORCID: 0000-0003-0726-3498
AD  - Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
FAU - Douedi, Steven
AU  - Douedi S
AUID- ORCID: 0000-0001-5006-828X
AD  - Department of Medicine, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
FAU - Guida, Melissa
AU  - Guida M
AD  - Department of Biology, Ramapo College of New Jersey, Mahwah, NJ 07430, USA.
FAU - Ajam, Firas
AU  - Ajam F
AD  - Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
FAU - Desai, Dhaval
AU  - Desai D
AD  - Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
FAU - Zales, Vincent
AU  - Zales V
AD  - Department of Pediatrics, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
FAU - Calderon, Dawn M
AU  - Calderon DM
AD  - Department of Cardiology, Jersey Shore University Medical Center, Neptune, NJ 
      07753, USA.
LA  - eng
PT  - Case Reports
DEP - 20201207
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - *Life Expectancy
MH  - *Longevity
MH  - Trisomy 18 Syndrome/*genetics
PMC - PMC7762407
OTO - NOTNLM
OT  - Edwards syndrome
OT  - chromosome
OT  - genetic screening
OT  - karyotype
OT  - trisomy 18
COIS- The authors declare no conflict of interest.
EDAT- 2020/12/11 06:00
MHDA- 2021/07/22 06:00
PMCR- 2020/12/07
CRDT- 2020/12/10 01:03
PHST- 2020/11/07 00:00 [received]
PHST- 2020/11/29 00:00 [revised]
PHST- 2020/12/04 00:00 [accepted]
PHST- 2020/12/10 01:03 [entrez]
PHST- 2020/12/11 06:00 [pubmed]
PHST- 2021/07/22 06:00 [medline]
PHST- 2020/12/07 00:00 [pmc-release]
AID - genes11121466 [pii]
AID - genes-11-01466 [pii]
AID - 10.3390/genes11121466 [doi]
PST - epublish
SO  - Genes (Basel). 2020 Dec 7;11(12):1466. doi: 10.3390/genes11121466.