Edward Syndrome is related with?

Appeared in: NCL (MP) Nursing Officer - 2020

Explanation

Edwards syndrome is a genetic disorder specifically caused by the presence of a third copy of chromosome 18.
This condition is medically termed Trisomy 18.
The provided image of a karyotype visually confirms this, showing three distinct copies of chromosome 18.
It is characterized by severe developmental delays and major physical abnormalities, particularly affecting the heart, head, and extremities.
The prognosis is very poor, with high mortality rates within the first year of life.

Option B: Trisomy of chromosome 13 causes Patau syndrome, not Edwards syndrome.
Option C: Trisomy of chromosome 21 causes Down syndrome, not Edwards syndrome.
Option D: Humans do not have an autosome numbered 24. Human cells contain 22 pairs of autosomes and one pair of sex chromosomes.

Clinical Relevance

Nursing practice connection: Knowing Genetic basis of common autosomal trisomies helps nurses interpret findings accurately and avoid errors in routine assessment, medication administration, and patient teaching.
Nursing care for an infant with Edwards syndrome is primarily supportive and focuses on comfort (palliative care), managing symptoms, and assisting with feeding, as the condition is life-limiting.
Genetic counseling is essential for parents of a child with Trisomy 18 to help them understand the diagnosis, the prognosis, and the very low risk of recurrence in future pregnancies (as most cases are due to random nondisjunction events).
What if? If the karyotype had shown Trisomy 21 instead, the diagnosis would be Down syndrome. The clinical approach would shift from palliative care to long-term management, including early intervention programs, screening for associated conditions (like heart defects and hypothyroidism), and family support for developmental needs.

How to Approach the Question

First, identify the key term in the question stem, which is 'Edward Syndrome'.
Recognize this as a factual recall question that links a specific genetic syndrome to its underlying chromosomal abnormality.
Access your knowledge of the three most common autosomal trisomies in live births.
Recall that Edwards syndrome is synonymous with Trisomy 18.
Systematically evaluate the given options: Option A (Trisomy 18) matches your recall. Option B (Trisomy 13) is Patau syndrome. Option C (Trisomy 21) is Down syndrome. Option D (Trisomy 24) is biologically impossible in humans.
Use the provided image of the karyotype as a final confirmation. Observe the circled area, which clearly shows three copies of chromosome 18, definitively identifying it as Trisomy 18.

Concept Tested & Keywords

Q9Mr8FrPy-uYRFu3Dm5YqI

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed pp. 175-177, 176-178

E6 Obstetrics Williams p. 6-17

Practise the full NCL (MP) Nursing Officer - 2020

Attempt every question from this paper in a timed mock, then review the full solution for each one.