Doenças Cromossomicas

Question 1

Trisomy 21

Answer 1

1. Incidense= 1 in 1000
2. Higher mother age= higher chances
3. Mild to severe mental retardaion
4. Low stature
5. Heart problems
6. Down syndrome

Question 2

Trysomy 13

Answer 2

1. Pague syndrome
2. Incompatible with life
3. Facial defects

Question 3

Trisomyof18

Answer 3

1. Edwards syndrome
2. Incompatible with life
3. Small body and big head

Question 4

Triploidy

Answer 4

1. Incompatible with life

Question 5

Hypomelanosis of Ito

Answer 5

• Mosaicism
• moderate learning difficulties
• características skin pattern
• convulsions

Question 6

Klinefelter

Answer 6

• 47 XXY
• lower IQ ( 10 - 20)
• gynecomastia
• tall individuals with longer limbs
• reproductive problems
• small genitalia

Question 7

Turner syndrome

Answer 7

• 45 X
• thick neck
• small stature
• normal intelligence

Question 8

Fragile X

Answer 8

• boys with caracteristic face ( long face)
• long CGG copies
• moderate to severe learning difficulties
• Autistic and hyperactive features

Question 9

4p deletions

Answer 9

• Wolf-Hirschhorn
• severe learning disabilities
• no clear correlation with phenotype
• 1 in 50.000

Question 10

5p deletion

Answer 10

• cri-du-cat
• severe learning difficulties
• “ Cat like” cry because of larynx malformation
• 1 in 50.000

Question 11

11p13 deletion

Answer 11

• Wagar tumor

- Embryonal kidney tumor

Question 12

15q11-13

Answer 12

• Angelman ( paternal) Prader-Willi (maternal)
• Inappropriate laughter convulsions
• Poor coordination
• mild to severe learning difficulties
• hypotonic and poor feeding in infancy
• later development of obesity
• maternal not common

Question 13

Deletion Xp22.3

Answer 13

• classic contiguous gene syndrome
• learning disability
• dry skin and hair
• flat face and small nose

Question 14

Deletion 22q11.2

Answer 14

• DiGeorge Syndrome
• heart malformation
• short palate
• velocardifacial
• short stature
• week imune system
• mild learning difficulties
• schizophrenia-like episodes in adult life.

Question 15

Duplication 22q11.2

Answer 15

• No definition
• sometimes mild learning difficulties
• sometimes multiple abnormalities
• heart problems
• Short palete
• growth retardation.

Question 16

Microdeletion 7q11

Answer 16

• Williams syndrome
• Congenital abnormalities in the great vessels and heart
• outgoing children, withdrawn adults
• can’t live a independent life

Question 17

Microdeletion 17p11.2

Answer 17

• Smith-Magenis syndrome
• Characteristic behavior self harming and self hugging
• sometimes heart problems
• learning problems moderate to severe
• disturbed sleeping pattern

Question 18

Deletion 1p36

Answer 18

• severe learning difficulties
• hypotonia
• microcephaly
• epilepsy
• characteristically straight eyebrows
• Some cases develop dilated cardiomyopathy

Question 19

Deletion 17q21.31

Answer 19

• koolen syndrome
• Severe mental development delay
• long face, high forehead and large ears
• heart defects
• epilepsy
• kidney abnormalities

Question 20

Deletions 1q21.1

Answer 20

• no distinctive features
• mild to moderate mental retardation
• growth retardation
• heart defects
• small head
• seizures
• autism

Question 21

Deletion 16p11.2

Answer 21

• low muscle tone
• verbal development delay
• mild learning disabilities
• larger head
• tendency to autism and seizures
• tendency to be overweight

Question 22

Duplication 16p11.2

Answer 22

• mild developmental and language delay
• tendency to seizures and mental health problems
• short stature and small head