Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052



Human Heredity: Principles and Iss...

11th Edition
Michael Cummings
Publisher: Cengage Learning
ISBN: 9781305251052
Chapter 6, Problem 23QP
Textbook Problem

Describe the chromosomal alterations and phenotype of cri du chat syndrome and Prader-Willi syndrome.

Summary Introduction

To illustrate: The chromosomal alterations and physical characteristics of cri du chat and Prader-Willi syndrome

Introduction: Regulation of cell is carried out by chromosomes. The ploidy of an organism is determined by the number of chromosomes present in it. Any change in the number of chromosomes is referred to as chromosomal aberration.

Explanation of Solution

Cri du chat syndrome:

Removal of a piece of 5th chromosome represented as 5p minus or 5p results in cri du chat syndrome. It is an uncommon chromosomal disorder caused by deletion of chromosome. It is also known as 5p monosomy. About 90% of the cases occur from erratic random deletion whereas rests of them are because of unequal separation of parental balanced translocation.

The characteristics which can be observed in this syndrome include sharp cat like cry, mental disability, delayed improvement, specific facial highlights, small circumference of head, low birth weight, dispersed eyes and weak muscles. With advancement of age, the cry turns out to be less significant.

Language issues can be seen in most of the cases. Almost 50% of the children learn the required verbal abilities to communicate whereas some of them try to use short sentences for communication. Some might even use signs for conveying a message. Various other characteristics such as scoliosis, hyperactivity, delay in strolling and many more can be seen.

The children and adults suffering from this disorder are usually interactive and mix up well among others.

Prader-Willi syndrome:

An uncommon genetic disorder caused by deletion of particular type of genes is termed as Prader-Willi syndrome...

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