Chromosomal & Genetic Factors

Question 0

• Upward slanting eyes
• Epicanthal folds
• Flattened faces
• Small ears
• Cardiac defects
• Hypotonia
• High arched palate, microdontia

Answer 0

Down’s Syndrome (Trisomy 21)

Question 1

• Partial deletion of chromosome 5
• Microcephaly
• Congenital heart disease
• Intellectual disability

Answer 1

Cri-du-chat (cry of the cat)

Question 2

Found in women
Absence of ovaries
Short stature
Webbed feet
Lymphedema of extremities
Skeletal deformities

Answer 2

Turner Syndrome (45,X)

Question 3

Taller frames with hypotonic muscles
Some degree of intellectual disability
Seizures and kidney anomalies

Answer 3

Trisomy X Syndrome

Question 4

Cardiac abnormality
Abnormal Facies
Thymic Aplasia
Cleft Palate
Hypocalcemia/Hypopoidism

Answer 4

DiGeorge Syndrome (22q11)

Question 5

Trisomy 18

Answer 5

Edward’s Syndrome

Question 6

Trisomy 13

Answer 6

Patau Syndrome

Question 7

XXY

Answer 7

Kleinfelter Syndrome

Question 8

X_

Answer 8

Turner Syndrome

Question 9

Gain of function in FGFR2

Answer 9

Apert Syndrome

Question 10

Gain of function in FGFR3

Answer 10

Crouzon Syndrome

Question 11

Loss of function in TCOF1

Answer 11

Treacher Collins Syndrome

Question 12

X chromosome breakage in a CGG nucleotide breakpoint
All mothers of affected sons are carriers
Males more severely affected than females
Large ears
Prominent jaw
Male (4/2000) vs. Female (1/4000)
Intellectual ability can range from mild to severe

Answer 12

Fragile X Syndrome

Question 13

Usually result from chromosome breakage

Answer 13

Structural Chromosomal Abnormalities

Question 14

Regions of chromosomes that demonstrate a propensity to separate or break under certain conditions

Answer 14

Fragile Sites

Question 15

Many congenital malformations are inherited
Some show a clear Mendalian pattern of inheritance
Abnormality attributed to a change in structure of single gene
This defect makes up about 8% of all human malformations
Many disorders may be multigenic

Answer 15

Mutant Genes

Question 16

What are the four types of anomalies?

Answer 16

Malformations
Aquired
Deformations
Syndromes

Question 17

What type of anomalies occur during development of structures?

Answer 17

Malformations

Question 18

What type of anomalies are morphological alterations of structures after formation?

Answer 18

Aquired

Question 19

What types of anomalies are due to mechanical forces that mold a part of the fetus over a prolonged period of time?

Answer 19

Deformations

Question 20

What kind of anomalies are a group of anomalies occurring together with a specific common etiology?

Answer 20

Syndromes