Chromosomal Abnormalities Flashcards Preview

Cytogenetics > Chromosomal Abnormalities > Flashcards

Flashcards in Chromosomal Abnormalities Deck (76)
Loading flashcards...
0

Type of myxoploidy that came from the same zygote

Mosaicism

2

Causes of chromosomal abnormality

-misrepair in broken chromosome
-improper recombination
-malsegregation during mitosis and meiosis

3

Cause by Abnormal fertilization. Abnormal event during early embryo

Constitutional abnormalities

4

Not all cells are affected

Acquired or somatic abnormalities

7

Complete sets of chromosomes. Good set

Euploid

8

Multiple cell line coming from different zygote

Chimerism

9

Missing pair of homologs
. Chromosome 6

Nullisomy

10

One chromosome are missing

Monosomy

11

Extra chromosome

Trisomy

12

Example of polyploidy

Mosaic triploidy

13

All cells are affected

Constitutional abnormalities

14

Failure of paired chromosome to separate during anaphase 1

Nondysjunction

15

Nondysjunction in meiosis

Trisomic
Monosomic

16

Inverted segment is on the long or short arm. Do not involve the centromere

Paracentric

18

Nondysjunction in mitosis

Mosaicism

19

Result of a delayed movement during anaphase

Anaphase lag

20

This substance recognize and repair broken chromosome ends

Enzymes

21

Prevent cells with unpaired chromosome breaks from entering mitosis

Cell cycle checkpoint mechanism

22

An extra chromosomal segment within the same homologous chromosomes

Duplication

23

Example of duplication wherein chromosome 17 duplicates

Charcot marie tooth disease type 1A

24

Ring chromosome 13&14

Mental retardation
Dysmorphic facial features

25

Portion of the chromosome has broken off turned upside down and reattached

Inversions

26

Loss of a segment of a chromosome

Deletion

27

Telomere is missing

Terminal deletion

29

Two arms have fused together to form a ring

Ring chromosome

30

Ring chromosome 20

Epilepsy

31

Ring X chromosome

Turner syndrome

32

What causes ring chromosome

Deletion of two telomeres

33

Dense staining structure seen in the nuclei of a female mammals

Barr body

34

Missing or extra chromosome
Not a good set

Aneuploidy