Chromosomal Abnormalities pt.2 Flashcards

1
Q

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

A

Translocation

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2
Q

An exchange of material between two different chromosome

A

Reciprocal Translocation

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3
Q

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

A

Robertsonian Translocation

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4
Q

Loss of a portion of a chromosome

A

Deletion

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5
Q

Abnormality that causes extra piece of a chromosome

A

Duplication

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6
Q

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

A

Insertion

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7
Q

Fragmentation of a chromosome followed by reconstitution with a section inverted

A

Inversion

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8
Q

Inversion involves centromere

A

Pericentric Inversion

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9
Q

Inversion that does not include the centromere

A

Paracentric Inversion

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10
Q

Division of chromosomes at centromere transversely instead of longitudinally

A

Isochromosomes

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11
Q

Aberrant chromosome whose sticky ends have fused together forming a ring

A

Ring Chromosome

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12
Q

3 Abnormal Features for Chromosomal Abnormalities

A

Simian Crease
Micrognathia
Clinodactyly

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13
Q

Most common chromosomal aberration

A

Down Syndrome

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14
Q

Affected chromosome in down syndrome

A

Trisomy 21

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15
Q

Chromosome name(?) for Down Syndrome

A

47, XX/XY, +21

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16
Q

is 95% of cases for Down Syndrome

A

Non-disjunction

17
Q

is 4% of cases for Down Syndrome

A

Translocatiom

18
Q

is 1% of cases for Down Syndrome

19
Q

Delayed motor movement

20
Q

Curved pinky finger

A

Clinodactyly

21
Q

Cry of the Cat

A

Cri du Chat

22
Q

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

A

Cri du Chat

23
Q

Affected organ in Cri du Chat

24
Q

Caused by deletion in 15q1.11-1.13 chromosome

A

Prader Willi

25
An agent/factor that causes malformation of embryo
Teratogen
26
Study of abnormal form
Dysmorphology
27
Refers to the assessment of birth defects and unusual physical features that have their origin during embryogenesis
Dysmorphology
28
Primary structural defect occurring during the development of a tissue or organ
Malformation
29
- Implies an abnormal intrauterine mechanical force - Distorts a normally formed structure
Deformation
30
- Involves destruction of a fetal part w/c initially formed normally
Disruption
31
Refers to abnormal cellular organization or function of specific tissue types
Dysplasia
32
Pattern of multiple abnormalities occurring after 1 initiating defect
Sequence
33
Sequence w/c all abnormalities may be traced to 1 original malformation (renal agenesis)
Potter's Syndrome
34
Group of malformations that occur together more often than expected by chance, but in different combinations from case to case
Association
35
Particular set of multiple anomalies occurs repeatedly in a consistent pattern
Syndrome