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Trisomy 18: a case study

Jacquelyn Shaw1

  • 1Baylor College of Medicine, Department of Pediatrics, Houston, Texas, USA. jackiekshaw@aol.com

Neonatal Network : NN
|February 1, 2008
PubMed

Insights

Trisomy 18 is a severe genetic disorder causing multiple birth defects. Infants often present with distinct physical features and congenital anomalies, leading to high mortality rates.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatrics

Background:

  • Trisomy 18, also known as Edwards syndrome, is a chromosomal abnormality.
  • It is characterized by the presence of an extra copy of chromosome 18 in cells.
  • This genetic disorder leads to significant developmental challenges and congenital anomalies.

Observation:

  • Infants with Trisomy 18 exhibit a recognizable pattern of physical features.
  • Common observations include prominent occiput, short palpebral fissures, micrognathia, and specific hand and foot deformities.
  • Congenital heart defects and renal malformations are frequently observed.

Findings:

  • The nondisjunction type of Trisomy 18 affects all cells, resulting in widespread developmental impact.
  • Characteristic physical findings serve as crucial diagnostic clues.
  • High mortality is associated with cardiac and renal issues, feeding problems, sepsis, and central nervous system defects.

Implications:

  • Early recognition of physical indicators is vital for timely diagnosis of Trisomy 18.
  • Understanding the spectrum of anomalies aids in managing associated health complications.
  • Further research into Trisomy 18 can improve patient care and outcomes.

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