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Question 573

Genetics → General

NextGen Workflow Status Needs Review
SQL status generated
Destination eBook
Type SSBA
UUID 789b17fa-d8ed-4e76-906b-9e9774a23d50

Classification

Speciality
Obstetrics and Gynaecology
Group
Basic
Title
Genetics
Topic
General
Subtopic 1
The Lyon Hypothesis
Subtopic 2
X Chromosome Inactivation
Subtopic 3
Expression in Female Carriers
Question Type
SBA

Question

SSBA
Question Header
Which explanation best accounts for both the cellular findings and her limited manifestations?
Question Stem
A woman carries an abnormal gene on her maternally inherited X chromosome and a normal copy on her paternally inherited X chromosome. Both copies are present in the DNA of the somatic cells tested. Nevertheless, most tested cells express the normal copy, while a minority express the abnormal copy. She has a few manifestations of the associated X-linked condition.

Options

A The abnormal X chromosome is inactivated only in germ cells, leaving both X chromosomes active in somatic cells
B The abnormal X chromosome is inactivated in every somatic cell
C Random X inactivation leaves the abnormal X active in some somatic cells and the normal X active in others
D Only the paternally inherited X chromosome can undergo inactivation in somatic cells
E Both X chromosomes are inactivated in the somatic cells expressing the abnormal gene

Explanation

The cells can retain the same two X chromosomes yet differ in which one remains active. Random inactivation may affect either the maternal or the paternal X. In cells with the normal paternal X inactive, the abnormal maternal X remains active and can account for manifestations in a carrier. Cells with the abnormal maternal X inactive express the normal copy. Lyon inactivation applies to somatic cells; germ cells are an exception.

Option Validity

A) The stated distribution reverses the distinction: Lyon inactivation applies to somatic cells, whereas germ cells require both X chromosomes.

B) Universal inactivation of the abnormal X would not explain the minority of cells expressing its gene.

D) Either the maternal or paternal X may be inactivated; a paternal-only rule does not explain the observed mixture of active copies.

E) Expression from the abnormal X requires it to remain active. Inactivation of both X chromosomes is not the mechanism described by the Lyon hypothesis.

Further Reading

Saxena R. Textbook for MRCOG-1: Basic Sciences in Obstetrics and Gynaecology. Jaypee Brothers Medical Publishers; 2016. Chapter 8, Genetics: X Chromosome and The Lyon Hypothesis. Printed pages 257–258.

Source & metrics

Authored Difficulty
5.00
Evaluation Score
—
Destination
eBook
Source
Saxena - MRCOG-1 Basic Sciences - Genetics
Source Section
Chapter 8 — Genetics; The Lyon Hypothesis
Source Locator
Printed pages 257–258
Updated
2026-10-06 01:57:35
Difficulty Factor
Not available yet
Attended Users
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