A genetic disorder with Trisomy 13 is also called:

Appeared in: AIIMS Raipur lecturer 2021

Explanation

Patau Syndrome is the clinical name for the genetic disorder caused by Trisomy 13.
This condition results from having an extra (third) copy of chromosome 13 in some or all of the body's cells, leading to severe developmental and physical abnormalities.
Key features that distinguish it include holoprosencephaly, midline facial defects like cleft lip/palate, and polydactyly.
The prognosis is extremely poor, with most affected infants succumbing within the first few weeks or months of life.

Option A: Cri du chat Syndrome is caused by a chromosomal deletion (part of chromosome 5 is missing), not a trisomy (an extra chromosome).
Option B: Edwards Syndrome is the name for Trisomy 18, not Trisomy 13. While both are severe trisomies, they involve different chromosomes and have distinct clinical features.
Option C: Klinefelter Syndrome is a sex chromosome aneuploidy (47,XXY) affecting males. It involves an extra X chromosome, not an extra autosome like chromosome 13.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Nomenclature and chromosomal basis of common genetic syndromes as background academic context rather than a clinical decision trigger.
Nurses play a vital role in supporting families who receive a prenatal or postnatal diagnosis of a chromosomal abnormality like Patau Syndrome.
This support includes providing clear, accurate information about the condition, facilitating access to genetic counseling, connecting the family with palliative care services, and offering emotional support during a difficult time.
Understanding the different types of chromosomal abnormalities helps the nurse anticipate potential health problems and provide appropriate care and education.

How to Approach the Question

This is a factual recall question that tests your knowledge of genetic terminology.
First, identify the key term in the question stem: 'Trisomy 13'.
Second, systematically review the options, recalling the specific chromosomal basis for each named syndrome.
Third, match 'Trisomy 13' with its correct eponym, which is 'Patau Syndrome'.
Fourth, confirm the other options are incorrect by recalling their definitions: Edwards Syndrome is Trisomy 18, Klinefelter Syndrome is 47,XXY, and Cri du chat Syndrome is a deletion on chromosome 5.

Concept Tested & Keywords

QCZgi3XEhpnQOOQByl8fmw

E6 Obstetrics Williams p. 6-17

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

Practise the full AIIMS Raipur lecturer 2021

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