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Down syndrome (Mongolism ) :

A child with Down syndrome has 47 chromosomes instead of 46 chromosomes because Trisomy for chromosome 21
(three copies of chromosome 21 autosome ).

2- Turner syndrome :

Abnormal female with 45 chromosomes , the sex chromosome is X chromosome only .

3-Klinefelter syndrome :

Abnormal male with 47 chromosome, the sex chromosomes are XXY .

4-Triple X Syndrome :

Female with 47 chromosomes, the sex chromosomes are : XXX

Mutations


Mutations


Mutations


5 - Abnormality in Chromosome Structure :

Structural abnormalities results from chromosomal breakage and abnormal reunion .
- Deletion :
Cri Du Chat Syndrome : The syndrome associated with deletion of part of short arm of chromosome 5 .
Mutations


Mutations




Mutations

6-Human Karyotype from bladder carcinoma showing

ring chromosome in addition to other chromosomal abnormalities .

7-Albinism :


In certain types of Albinism , the enzyme Tyrosinase is inactive or Lacking , resulting in a block in the Pathway of conversion of Tyrosine to the Dark-colored Pigment Melanin




Mutations


Mutations


Mutations




Mutations

8-Breast Cancer

Mutations



Several chromosomal changes ; abnormalities chromosomes in number, translocation , deletion and structure .



رفعت المحاضرة من قبل: Mustafa ALkheroo
المشاهدات: لقد قام 8 أعضاء و 82 زائراً بقراءة هذه المحاضرة








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