of Abnormality Number of autosomes and sex chromosomes Classification of abnormality (be specific ex monosomy) Affected Chromosome number Distinguishing characteristics (one or two) Metafemale syndrome 45

Human Anatomy & Physiology (11th Edition)
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ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
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complete the table

Name of Abnormality

Number of autosomes and sex chromosomes

Classification of abnormality

(be specific ex monosomy)

Affected Chromosome number

Distinguishing characteristics

(one or two)

Metafemale syndrome

45

Numerical abnormality

Sexual aneuploidy

Missing chromosome x

Webbed neck

klinefelter syndrome

47

 

Chromosome x

Small testicles, poor muscular growth

Wolf-hirschhorn syndrome

46

Structural abnormality Deletion

 

Chromosome 4

Hypotonia, intellectual disability

Cri du chat syndrome

46

 

Chromosome 5

Cat like cry, small head

 

Jacobsen syndrome

46

Structural abnormality Deletion

Chromosome 11

 

Pallister-Killian syndrome

47

 

Chromosome 12

 

patau syndrome

47

 

Chromosome 13

 

Isodicentic 15 syndrome

47

Numerical abnormality autosomal aneuploidy

 

Chromosome 15

 

Edward’s syndrome

47

 

Chromosome 18

 

Cat eye syndrome

46

 

Chromosome 22

 

Down syndrome

47

Numerical abnormality trisomy

Chromosome 21

With oblique eyes

Jacob’s syndrome

44

Numerical abnormality Sexual aneuploid

Y chromosome

Also called as criminal syndrome

Turner syndrome

45

 

X chromosome

 

 

guillain barre syndrome

45

Numerical abnormality sexual aneuploid

 

Can not survive long

Alagille syndrome

47

Structural abnormality Translocation

Chromosome 20

 

 

 

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