Chromosomal Abnormalities pt.2

Question 1

The transfer of a chromosome or a segment of it to a non-homologous chromosome

Answer 1

Translocation

Question 2

An exchange of material between two different chromosome

Answer 2

Reciprocal Translocation

Question 3

A break in the centromere causing the chromosomes’ arms to fuse

Answer 3

Robertsonian Translocation

Question 4

Loss of a portion of a chromosome

Answer 4

Deletion

Question 5

Abnormality that causes extra piece of a chromosome

Answer 5

Duplication

Question 6

A position of one chromosome has been deleted from its normal place and inserted into another chromosome

Answer 6

Insertion

Question 7

Fragmentation of a chromosome followed by reconstitution with a section inverted

Answer 7

Inversion

Question 8

Inversion involves centromere

Answer 8

Pericentric Inversion

Question 9

Inversion that does not include the centromere

Answer 9

Paracentric Inversion

Question 10

Division of chromosomes at centromere transversely instead of longitudinally

Answer 10

Isochromosomes

Question 11

Aberrant chromosome whose sticky ends have fused together forming a ring

Answer 11

Ring Chromosome

Question 12

3 Abnormal Features for Chromosomal Abnormalities

Answer 12

Simian Crease
Micrognathia
Clinodactyly

Question 13

Most common chromosomal aberration

Answer 13

Down Syndrome

Question 14

Affected chromosome in down syndrome

Answer 14

Trisomy 21

Question 15

Chromosome name(?) for Down Syndrome

Answer 15

47, XX/XY, +21

Question 16

is 95% of cases for Down Syndrome

Answer 16

Non-disjunction

Question 17

is 4% of cases for Down Syndrome

Answer 17

Translocatiom

Question 18

is 1% of cases for Down Syndrome

Answer 18

Mosaicism

Question 19

Delayed motor movement

Answer 19

Hypotonia

Question 20

Curved pinky finger

Answer 20

Clinodactyly

Question 21

Cry of the Cat

Answer 21

Cri du Chat

Question 22

Caused by Deletion of about half of p arm of Chromosome 5

Answer 22

Cri du Chat

Question 23

Affected organ in Cri du Chat

Answer 23

Larynx

Question 24

Caused by deletion in 15q1.11-1.13 chromosome

Answer 24

Prader Willi

Question 25

An agent/factor that causes malformation of embryo

Answer 25

Teratogen

Question 26

Study of abnormal form

Answer 26

Dysmorphology

Question 27

Refers to the assessment of birth defects and unusual physical features that have their origin during embryogenesis

Answer 27

Dysmorphology

Question 28

Primary structural defect occurring during the development of a tissue or organ

Answer 28

Malformation

Question 29

• Implies an abnormal intrauterine mechanical force
• Distorts a normally formed structure

Answer 29

Deformation

Question 30

• Involves destruction of a fetal part w/c initially formed normally

Answer 30

Disruption

Question 31

Refers to abnormal cellular organization or function of specific tissue types

Answer 31

Dysplasia

Question 32

Pattern of multiple abnormalities occurring after 1 initiating defect

Answer 32

Sequence

Question 33

Sequence w/c all abnormalities may be traced to 1 original malformation (renal agenesis)

Answer 33

Potter’s Syndrome

Question 34

Group of malformations that occur together more often than expected by
chance, but in different combinations from case to case

Answer 34

Association

Question 35

Particular set of multiple anomalies occurs repeatedly in a consistent pattern

Answer 35

Syndrome