In which of the following genetic condition, Karyotype 47, XXY is seen?

Appeared in: Chitranjjan National Cancer Institute Kolkata - 2021

Explanation

Klinefelter's syndrome is a sex chromosome aneuploidy, meaning it involves an abnormal number of sex chromosomes.
The characteristic karyotype for this condition is 47,XXY, indicating the presence of an extra X chromosome in a male.
This extra genetic material leads to specific physical and developmental features, most notably male hypogonadism (underdeveloped testes).
The presence of the Y chromosome determines the male phenotype, despite the two X chromosomes.

Option A: Down's syndrome is an autosomal trisomy, not a sex chromosome disorder. It is caused by an extra copy of chromosome 21 (Trisomy 21).
Option C: Edward's syndrome is an autosomal trisomy caused by an extra copy of chromosome 18 (Trisomy 18).
Option D: Patau's syndrome is an autosomal trisomy resulting from an extra copy of chromosome 13 (Trisomy 13).

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Chromosomal Abnormalities and Associated Syndromes as background academic context rather than a clinical decision trigger.
Nurses play a key role in identifying potential signs of Klinefelter's syndrome in childhood, such as learning disabilities, language delays, or psychosocial difficulties, and referring for genetic testing.
Patient education is a critical nursing function, involving explaining the diagnosis, the importance of lifelong testosterone therapy, and counseling on fertility options like testicular sperm extraction.
Nurses monitor for and help manage associated health risks, including metabolic syndrome, type 2 diabetes, osteoporosis, and autoimmune disorders.

How to Approach the Question

First, identify the core of the question, which is to match a specific karyotype (47, XXY) to a genetic syndrome.
This is a factual recall question. Access your knowledge base of common chromosomal abnormalities.
Analyze the karyotype '47, XXY'. The '47' indicates an extra chromosome (aneuploidy). The 'XXY' indicates the abnormality is in the sex chromosomes, with an extra X in a male.
Evaluate the options provided:
Down's, Edward's, and Patau's syndromes are all autosomal trisomies (+21, +18, +13, respectively), not sex chromosome disorders.
Klinefelter's syndrome is the classic example of a 47,XXY karyotype.

Concept Tested & Keywords

QtgseebheW46ugBaWC5w3N

E6 Pathology-Vandana Puri & Kavita Gaur Textbook of Pathology and Genetics p. 569-571

E6 Pathology- ROBBINS & COTRAN PATHOLOGIC BASIS OF DISEASE 10TH Ed p. 177-179

E6 Nelson Textbook of Pediatrics(2024) — Volume 2 p. 1296-1298

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