Name of Abnormality Number of autosomes and sex chromosomes Classification of abnormality Affected Chromosome /number Description Metafemale syndrome   Numerical abnormality Sexual aneuploidy       47   Chromosome x   Wolf-hirschhorn syndrome   Structural abnormality Deletion       46   Chromosome 5       Structural abnormality Deletion Chromosome 11   Pallister-Killian syndrome     Chromosome 12     47   Chromosome 13   Isodicentic 15 syndrome 47 Numerical abnormality autosomal aneuploidy       47   Chromosome 18   Cat eye syndrome     Chromosome 22   Down syndrome 47     With oblique eyes     Numerical abnormality Sexual aneuploid   Also called as criminal syndrome Turner syndrome 45           45 Numerical abnormality sexual aneuploid   Can not survive long Alagille syndrome   Structural abnormality Translocation

Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN:9781305251052
Author:Michael Cummings
Publisher:Michael Cummings
Chapter6: Cytogenetics: Karyotypes And Chromosome Aberrations
Section: Chapter Questions
Problem 22QP: Identify the type of chromosomal aberration described in each of the following cases: a. loss of a...
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Complete the table:

 

Chromosomal Abnormalities

Name of Abnormality

Number of autosomes and sex chromosomes

Classification of abnormality

Affected Chromosome /number

Description

Metafemale syndrome

 

Numerical abnormality

Sexual aneuploidy

 

 

 

47

 

Chromosome x

 

Wolf-hirschhorn syndrome

 

Structural abnormality Deletion

 

 

 

46

 

Chromosome 5

 

 

 

Structural abnormality Deletion

Chromosome 11

 

Pallister-Killian syndrome

 

 

Chromosome 12

 

 

47

 

Chromosome 13

 

Isodicentic 15 syndrome

47

Numerical abnormality autosomal aneuploidy

 

 

 

47

 

Chromosome 18

 

Cat eye syndrome

 

 

Chromosome 22

 

Down syndrome

47

 

 

With oblique eyes

 

 

Numerical abnormality Sexual aneuploid

 

Also called as criminal syndrome

Turner syndrome

45

 

 

 

 

 

45

Numerical abnormality sexual aneuploid

 

Can not survive long

Alagille syndrome

 

Structural abnormality Translocation

 

 

 

 

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