CYTOGENETIC DISORDERS involving autosomes

Question 1

It is the only human autosomal trisomy in which a significant number of individuals survive longer than a year past birth.

Answer 1

Trisomy 21

Question 2

Who discovered Trisonomy 21?

Answer 2

Langdon Down

Question 3

Most cases of Downs syndrome are caused by?

Answer 3

non-disjunction

Question 4

This refers to the failure of homologous chromosomes to separate in meiosis

Answer 4

Non-disjunction

Question 5

This nondisjunction is more likely to happen on oogenesis than in spermatogenesis.

Answer 5

Nondisjunction of chromosome 21

Question 6

This copy of chromosome 21 is responsible for most of the malformation in a human being.

Answer 6

Third copy

Question 7

Trisonomy 18 is AKA as?

Answer 7

Edwards syndrome

Question 8

Trisonomy 13 is AKA?

Answer 8

Patau Syndrome

Question 9

This is a rare conditions associated with major developmental abnormalities

Answer 9

Trisomy 18 (Edwards Syndrome)
Trisomy 13 (Patau Syndrome)

Question 10

The following symptoms below refers to?
- Mental retardation,
- Multiple physical abnormalities such as heart defects,
- affected children are small in stature because
of delayed maturation of the skeletal system,
- Poor muscle tone resulting in a characteristic
facial appearance, Shortened life span

Answer 10

Trisomy 21

Question 11

Who discovered Trisonomy 13?

Answer 11

Klaus Patau

Question 12

In 1960, Klaus Patau and his associated observed an infant with severe developmental malformations with a karyotype of 47 chromosomes

Answer 12

Trisonomy 13

Question 13

What is the average survival of Trisonomy 13?

Answer 13

Less that six months

Question 14

These symptoms belongs to?
■ Affected infants are not mentally alert
■ Are thought to be deaf
■ Characteristically have a harelip, clef palate
■ Demonstrate polydactyly
■ Autopsy reveals congenital malformation of most organ
systems
■ Condition indicative of abnormal developmental events
occurring as early as 5-6 weeks of gestation.

Answer 14

Trisonomy 13

Question 15

Who discovered Trisonomy 18?

Answer 15

John H. Edwards

Question 16

What did John H. Edwards and his colleagues reported about Trisonomy 18?

Answer 16

infant trisomic for a chromosome in the E group

Question 17

What is the survival of Trisonomy 18?

Answer 17

Less than 4 months

Question 18

To which these characteristics belongs to?
- Congenital heart defects,
- growth retardation,
- dysmorphic features,
- facial clefts,
- spina bifida, -
- severe developmental delay

Answer 18

Trisonomy 18

Question 19

To which does these CHARACTERISTICS belong?
■ Smaller than the average newborn
■ Skulls are elongated in an anterior-posterior
direction
■ Ears are set low and malformed
■ Webbed neck
■ Congenital dislocation of hips
■ Receding chin

Answer 19

Trisonomy 18

Question 20

This disease is due to a missing piece (deletion) of a specific part of chromosome 5 known as the ‘p’ arm.

Answer 20

Cri-du-Chat

Question 21

In general, the severity of the symptoms of Cri-du -Chat is determined by the size and location of the deletion on?

Answer 21

Chromosome 5

Question 22

Infants with this condition often have a high pitched cat-like cry, small head size, and a characteristic facial appearance.

Answer 22

Cri-du-Chat

Question 23

These symptoms belongs to?
○ Cat-like cry
○ Small head size (microcephaly)
○ Characteristic facial features
○ Hypotonia
○ Intellectual disability
○ Global developmental delay
○ Behavior issues
○ Growth delay

Answer 23

Cri-du-Chat