ENDO PART 2

Question 1

If treatment is successful, most chromosome abnormalities are no longer evident in the bone marrow and as long as the karyotype appears to be normal, the patients would be said to be in

Answer 1

remission

Question 2

At relapse, the same chromosome anomalies will reappear and may be accompanied by additional abnormalities and/or more complex cell lines, finding consistent with

Answer 2

disease progression

Question 3

An increase in complexity over time is known as ____ and, in general, poor prognosis and severity of disease is directly correlated to the number and type of chromosome abnormalities seen.

Answer 3

karyotype evolution

Question 4

The most common cause of mental retardation is

Answer 4

trisomy 21 or Down syndrome

Question 5

This disorder is characterized by hypotonia, flat facies, slanted palpebral fissures, small ears, protruding tongue, transverse palmar crease, heart defects, and hypogonadism.

Answer 5

trisomy 21 or Down syndrome

Question 6

Under 3% of patients having Down Syndrome tend to express a milder phenotype and have been shown to be ____ with two cell lines that may include a 46, XX or 46, XY line.

Answer 6

mosaics

Question 7

A child with a translocation is often indicative of the presence of a ______, so, in these cases, karyotype analysis of both parents is generally recommended to determine if the couple is at increase risk of having additional Down syndrome children in future pregnancies.

Answer 7

translocation carrier parent

Question 8

Trisomy 13 is also called

Answer 8

Patau syndrome

Question 9

trisomy 18 is also called

Answer 9

Edward syndrome

Question 10

males tend to be all and thin with relatively long legs.

Answer 10

Klinefelter syndrome (47, XXY)

Question 11

The most common reason for referral in Sex Chromosome Aneuploidies is

Answer 11

• postpubertal hypogonadism;
• female-like breast development;
• infertility due to small testicles, hyalinized testicular tubules, and azoospermia.

Question 12

The most commonly recognized sex chromosome aneuploidy presenting with a female phenotype is

Answer 12

Turner syndrome: 45,X

Question 13

Also know as 4p-syndrome, is due to an apparently terminal deletion of the short arm of chromosome 4 [del(4)(p16)].

Answer 13

Wolf-Hirschhorn syndrome

Question 14

[del(5)(p15)] is characterized by a distinctive high-pitched, cat-like cry in infancy.

Answer 14

Cri du chat or 5p-syndrome

Question 15

Are small, they are significantly larger (>500 kb) than the typical molecular deletion
(1 base pair [bp] to several hundred bp, which can only be resolved by molecular technology.

Answer 15

Microdeletions

Question 16

These syndromes in microdeletion are collectively called

Answer 16

contiguous gene syndromes

Question 17

Clearly demonstrates the overlap between microdeletion and contiguous gene syndromes. The disorder has been associated with a microdeletion of the distal short arm of chromosome 17 (17p13.3). Cardinal clinical features are lissencephaly (smooth brain) and craniofacial anomalies.

Answer 17

Miller-Dieker syndrome

Question 18

The best known of the microdeletion syndromes are

Answer 18

Prader-Willi syndrome (PWS) and Angelman syndormes (AS)

Question 19

Patients are small and hypotonic at birth, but change within the first year of the life & begin to gain weight rapidly.

Answer 19

Prader-Willi

Question 20

Patient, are severely mentally retarded.

Answer 20

Angelman syndormes (AS)

Question 21

Has been associated with a deletion of the elastin gene (ELN) on the proximal long arm of chromosome 7 (7q11.23). The disorder is characterized by cardiac abnormalities, hypertension, hoarse voice, premature aging of the skin, and behavioral anomalies.

Answer 21

Williams syndrome

Question 22

Is possibly the most common microdeletion syndrome in humans, but is often not recognized due to a broad spectrum of clinical features and a presentation that can be quite mild.

Answer 22

Velocardiofacial syndrome

Question 23

The second leading cause of mental retardation and is the primary cause of inherited mental retardation. The mutation was identified as an amplification of a trinucleotide repeat sequence

Answer 23

Fragile X syndrome

Question 24

Chromosomal breakage syndromes are a set of autosomal recessive disorders that were originally grouped together due to the common finding of chromosome instability or fragility.

Answer 24

Breakage Syndromes

Question 25

Inability to repair the DNA inr Breakage Syndromes can lead to

Answer 25

(1) Breakage or increased recombination that can be characterized by chromosome instability
(1) Additional mutations and defects in the DNA sequence that can lead to cancer.

Question 26

Gene MAO2K6

Answer 26

Ambras Syndrome

Question 27

These are the classic hormones which are characteristically secreted into the bloodstream and reach target organs which are distant from the source of the hormone.

Answer 27

Endocrine hormones.

Question 28

These hormones reach their target within the same site by diffusing through interstitial fluid. Examples: cytokines produced by cells of the immune system.

Answer 28

Paracrine hormones.

Question 29

These hormones act back on the cells which act as the source of the hormones to modulate their secretion or the intracellular processes involved. Example: prolactin (PRL) produced by the anterior pituitary gland.

Answer 29

Autocrine hormones