Diseases Yo

Question 1

Wilson’s Disease

Answer 1

Due to mutation in ATP7B gene.
Coding the ATP7B protein: that helps transfer excess copper into the blood stream and bile.

Liver disease (cirrhosis) and neurological problems (psychological and movement disorder).

Question 2

What identifying structure can help us suspect Wilson’s Disease?

Answer 2

Kayser-Fleischer Rings: corneal deposits of copper visibile on eye examination

Question 3

What diseases do 1q21.1 duplications result in?

Answer 3

Autism, macrocephaly

Question 4

What disease does 1q21.1 deletions result in?

Answer 4

Schizophrenia, microcephaly

Question 5

DiGeorge Syndrome is a mutation on what chromosome?

Answer 5

ch 22q (on unstable region)

Question 6

Autism, macrocephaly, schizophrenia, microcephaly are diseases on what chromosome?

Answer 6

1q21.1

Question 7

Chronic myelogenous leukemia

Answer 7

a result of reciprocal chromosome translocation.
95% have a philedelphia ch. (22) and and abnormal ch 9
Treated by gleevac

Question 8

Trisomy 21 can result from which 5 mechanisms?

Answer 8

1. Meiosis I nondisjunction (maternal) (95% of down patients)
2. Robertsonian translocation (4%)
3. Isochromosome (21q21q translocation)
4. Mosaic Down syndrome
5. Partial trisomy 21

Question 9

Charcot Marie Tooth (CMT1A1)

Answer 9

Autosomal dominant disorder caused by duplication of 17p.11.2, containing the gene for peripheral myelin protein-22 (PMP-22)
Characterized by weakness of the foot/lower leg muscle, foot deformities (hammertoes), weakness, muscle atrophy of hands

Question 10

Hereditary neuropathy with predisposition to pressure palsies

Answer 10

Deletion of gene encoding peripheral myelin protein-22, 17 p11.2, resulting in deletion of PMP-22

Question 11

What are the types of hereditary sensory motor neuropathy disorders?

Answer 11

Charcott Marie Tooth

Hereditary neuropathy with predisposition/liability to pressure palsy

Question 12

What are two continuous gene syndromes?

Answer 12

Velocardial facial syndrome

DiGeorge syndrome

Question 13

What are two types of gene imprinting syndromes?

Answer 13

Prader-Willi syndrome

Angelman syndrome

Question 14

Prader-Willi and Angelman syndrome are both due to a deletion on which chromosome?

Answer 14

del(15q11-q13)

PWS: SNORD116 (snoRNA gene)
AS: UBE3A

Question 15

Cri-du-chat syndrome

Answer 15

46, XY, del(5)(p15)

a deletion in ch 5 in denoted p-one-five region.

Question 16

trisomy 21

Answer 16

Down syndrome

characteristics: short stature, hypotonia, moderate intellectual disabilities, Brushfield spots, flat nasal bridge, low set, folded ears, epicanthal folds, and upslanting palpebral fissures ect.

Congenital malformations – endocardial cushion defects, duodenal atresia and
other gastrointestinal anomalies, Hirschprung disease. ect.

Question 17

trisomy 18

Answer 17

Edward’s syndrome

characteristics: Intrauterine growth retardation, characteristic facies, severe intellectual disabilities, o Receding jaw, Malformed and low set ears, Short sternum, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits, Rocker-bottomed feet with prominent calcaneous bones, Single palm creases with arch patterns on digits
.
Congenital malformations – valvular heart disease, posterior fossa CNS maldevelopment, diaphragmatic hernias, renal anomalies

Question 18

trisomy 13

Answer 18

Patau’s syndrome

characteristics: Characteristic facies, severe intellectual disabilities, Sloping forehead, Microccephaly, Wide, open sutures, Micropthalmia (sm eyes), Iris Coloboma (holes, defects in iris), Absence of the eyes, Cleft lip, Cleft palate, Hands and feet may have polydactyly, Rocker-bottomed feet, Transverse palmar creases, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits

Congenital malformations – holoprosencephaly, facial clefts, polydactyly, renal anomalies

Question 19

47, XXY

Answer 19

Klinefelter’s syndrome

Tall stature, hypogonadism, elevated frequency of gynecomastia, high frequency of sterility, language impairment

Question 20

45, X

Answer 20

Turner’s syndrome

Short stature, webbed neck, edema of hands and feet, broad shield-like chest, narrow hips, renal and cardiovascular anomalies, gonadal dysgenesis (failure of ovarian maintenance).

Question 21

Edwards syndrome

Answer 21

Trisomy 18

characteristics: Intrauterine growth retardation, characteristic facies, severe intellectual disabilities, o Receding jaw, Malformed and low set ears, Short sternum, Fists clench with 2nd and 5th digits overlapping 3rd and 4th digits, Rocker-bottomed feet with prominent calcaneous bones, Single palm creases with arch patterns on digits
.
Congenital malformations – valvular heart disease, posterior fossa CNS maldevelopment, diaphragmatic hernias, renal anomalies

Question 22

Williams syndrome

Answer 22

Del(7q11.2)
An autosomal contiguous gene syndrome
Congenital heart disease
Short stature

Question 23

Del (22q11.2)

Answer 23

DeGeorge syndrome

Velocardial facial syndrome

Question 24

chronic myelogenous leukemia (CML)

karyotype and treatment

Answer 24

t(9:22)
aka chronic lymphocytic leukemia
BCR-ABL normally exists as two separate tyrosine kinases, the translocation mut. causes them to fuse

treated by gleevac

Question 25

Amyloid myeloid leukemia (AML)

karyotype and treatment

Answer 25

t(15:17)
results in fusion protein consisting of PML and RAR alpha

treated by retinoic acid and arsenic trioxide

Question 26

Common cytogenic finding in childhood B-cell acute lymphoblastic leukemia (ALL)

Answer 26

high hyper-diploidy (found by FISH analysis)