cytogenetic disorders

Question 1

The standard for cytogenetic nomenclature is the__

Answer 1

International System of Cytogenetic
Nomenclature (ISCN)

Question 2

The nomenclature describing a chromosome complement can be broken down into three
basic parts:

Answer 2

: the total number of chromosomes, the sex chromosome complement, and
any chromosome abnormalities

Question 3

A normal female would be ___

Answer 3

46,XX

Question 4

These units are listed in order, separated by commas.

Answer 4

yes

Question 5

A normal male would be__

Answer 5

A normal male would be 46,XY

Question 6

• A trisomy 13 in female would be written as ___

Answer 6

47,XX,+13

Question 7

• A monosomy 8 in a male would be written as __

Answer 7

45,XY,-8

Question 8

it is not necessary to use a + or – sign when sex chromosome variation is
known to be constitutional or inherent, because the change in the chromosome
complement can be noted directly

Answer 8

sige

Question 9

Autosomal monosomies are observed only
rarely among ___ and ___

Answer 9

spontaneous abortions and
live births

Question 10

• ____ is found in 30% to 50% of all cases of
  chromosomal abnormalities in fetal death

Answer 10

Autosomal trisomy

Question 11

Only few autosomal trisomies result in live births (__

Answer 11

trisomy 8, 13, and
18)

Question 12

Trisomy ___ (Down syndrome) is the only autosomal trisomy that
allows survival into adulthood

Answer 12

21

Question 13

Patau
Syndrome (47,+13)

Answer 13

Trisomy 13

Question 14

47 chromosomes, and the extra chromosome was identified as
chromosome 13

Answer 14

Trisomy 13: Patau
Syndrome (47,+13)

Question 15

Only ____ in 15,000 live births involves trisomy 13, and the condition is
lethal

Answer 15

1

Question 15

Half of all affected individuals die in the first month, and the mean
survival time is __

Answer 15

6 months

Question 15

Abnormalities of trisomy 13 include ___

Answer 15

facial malformations, eye defects, extra
fingers or toes, and feet with large protruding heels

Question 15

Infants with this condition are small at birth, grow very slowly, and are
mentally retarded

Answer 15

Trisomy 18: Edwards Syndrome (47,+18)

Question 16

Occurs in 1 in 11,000 live births, average survival time is 2 to 4 months

Answer 16

Trisomy 18: Edwards Syndrome (47,+18)

Question 16

For unknown reasons, 80% of all trisomy 18 births are

Answer 16

female

Question 16

in trisomy 13 There is usually severe malformations of the brain and nervous
system, as well as congenital heart defects

Answer 16

true

Question 16

__ is the only factor known to be related to trisomy 13

Answer 16

Parental age

Question 17

is predisposing factor or t18

Answer 17

Advanced maternal age

Question 17

• Heart malformations are almost always present, and heart failure or
  pneumonia usually causes death

Answer 17

Trisomy 18: Edwards Syndrome (47,+18)

Question 17

Clenched fists, with the second and fifth fingers overlapping the third and fourth fingers, and malformed feet are characteristic

Answer 17

Trisomy 18: Edwards Syndrome (47,+18)

Question 18

Trisomy 21: Down Syndrome (47,+21) described by __ in 1866

Answer 18

Described by John Langdon Down in 1866

Question 19

The only human autosomal trisomy in which a significant number of individuals survive longer than a year past birth

Answer 19

Trisomy 21: Down Syndrome (47,+21)

Question 20

Found in 1 in every 800 births

Answer 20

Trisomy 21: Down Syndrome (47,+21)

Question 21

* Leading cause of childhood mental retardation and heart defects in the US

Answer 21

Trisomy 21: Down Syndrome (47,+21)

Question 22

Characterized by prominent epicanthic fold in each eye, and individuals usually have a wide, flat skull, and spots on the iris

Answer 22

Trisomy 21: Down Syndrome (47,+21)

Question 23

They may have furrowed, large tongues that cause the mouth to remain partially open

Answer 23

Trisomy 21: Down Syndrome (47,+21)

Question 24

Physical growth, behavior, and mental development are retarded, and approximately 40% of all ___ children have congenital heart defects

Answer 24

Down syndrome

Question 25

They are susceptible to respiratory infections and contract leukemia at a rate far above that of the normal population

Answer 25

Trisomy 21: Down Syndrome (47,+21)

Question 26

It is observed that death in older adults with Down syndrome is frequently due to

Answer 26

Alzheimer disease

Question 27

__ is a leading risk factor for trisomy

Answer 27

Maternal age

Question 28

Young mothers have a low probability of having trisomy 21 children, but the risk increases rapidly after age 35 yea

Answer 28

omsim

Question 29

The relationship between maternal age and nondisjunction focuses on the duration of __ in females

Answer 29

meiosis

Question 30

According to this idea, the embryo-uterine interaction normally results in the spontaneous abortion of chromosomally abnormal embryos, a process called

Answer 30

maternal selection

Question 31

As women age, maternal selection may become less effective, allowing more chromosomally abnormal embryos to implant and develop

Answer 31

oki

Question 32

Females with this condition are short and wide-chested with rudimentary ovaries

Answer 32

Turner Syndrome (45,X)

Question 33

At birth, puffiness of the hands and feet is prominent, but that disappears in infancy

Answer 33

Turner Syndrome (45,X)

Question 34

Many __ patients also have a narrow constriction of the aorta

Answer 34

turner

Question 35

turner There is no mental retardation associated with this syndrome

Answer 35

opo

Question 36

Characterized by short stature (usually under 5 feet), skin flaps on the back of the neck, and underdeveloped breasts

Answer 36

turner syndrome

Question 37

Occurs with a frequency of 1 in 10,000 female births

Answer 37

turner syndrome

Question 38

Two X chromosomes are needed for normal development of the ovary, normal growth patterns, and development of the nervous system in females

Answer 38

Turner Syndrome (45,X)

Question 39

Complete absence of an X chromosome in the absence or presence of a Y chromosome is always lethal

Answer 39

Turner Syndrome (45,X)

Question 40

Occurs in approximately 1 in 1,000 male births

Answer 40

Klinefelter Syndrome (47,XXY)

Question 41

The features of this syndrome do not develop until puberty

Answer 41

Klinefelter Syndrome (47,XXY)

Question 42

Affected individuals are male but have very low fertility

Answer 42

Klinefelter Syndrome (47,XXY)

Question 43

* Individuals with this condition are generally tall and often have long arms and legs

Answer 43

Klinefelter Syndrome (47,XXY)

Question 44

* They have genitalia and internal ducts that are male, but their testes are reduced in size

Answer 44

Klinefelter Syndrome (47,XXY)

Question 45

Although 50% of affected individuals do produce sperm, a low sperm count renders most individuals sterile

Answer 45

Klinefelter Syndrome (47,XXY)

Question 46

Gynecomastia is common, and hips are often rounded

Answer 46

Klinefelter Syndrome (47,XXY)

Question 47

Presence of an additional Y chromosome in an otherwise male karyotype

Answer 47

XYY Syndrome (47,XYY)

Question 48

It results from the deletion of a small terminal portion of chromosome 5

Answer 48

Cri du Chat Syndrome (46,5p-)

Question 49

biirubin pathway

Answer 49

heme - (heme oxigenase )- biliverdin - (biliverdin reductase) --> b1 + albumin they will reach liver. While in the liver, the carrier will now become - Ligandin --> B1 + ligandin -- acted upon by UDPT conjugated by the conjugating enzyme uridyl diphosphate glucoronyl transferase --> B2 - gallblader -- intestine (metabolized by the bacteria) -- ur0bilinogen -- either in intestine or in kidney

Question 50

which bilirubin is water polar

Answer 50

b2

Question 51

tighthly bounded b1 and albumin in liver is called

Answer 51

delta bilirubin

Question 52

Has longer half-life than other forms of bilirubin

Answer 52

DELTA BILIRUBIN

Question 53

Formed due to prolonged elevation of conjugated bilirubin

Answer 53

DELTA BILIRUBIN

Question 54

Helps in monitoring the decline of serum bilirubin following

Answer 54

gall stones

Question 55

A condition characterized by a yellow discoloration or pigmentation of the skin, sclera and mucous membranes

Answer 55

jaundice

Question 56

Normal – bilirubin total

Answer 56

0.2 - 1.0 mg/dL

Question 57

in case the bilirubin goes up to 3.0 , it will be called as

Answer 57

overt jaundice - patient is not yet yellow

Question 58

in case the bilirubin goes up to 5.0 , it will be called as

Answer 58

clinical jaundice - madilaw na ang patient

Question 59

Prehepatic hyperbilirubinemia

Answer 59

INCREASE b1 INCREASE urobilinogen NORMAL b2

Question 60

Prehepatic hyperbilirubinemia causes

Answer 60

all related to rbc malaria HDN

Question 61

Implies damage to hepatocytes where both types of bilirubin are increased Increase both B1 and B2

Answer 61

Hepatic hyperbilirubinemia

Question 62

responsible for the uptake of the bilirubin in the hepatic cynosoites

Answer 62

Gilbert’s syndrome

Question 63

Retention jaundice has an incease in __

Answer 63

B1

Question 64

Crigler-Najjar syndrome (Type I and II) is absence of

Answer 64

UDGPT - conjugating enxyme

Question 65

type 1 Crigler-Najjar syndrome

Answer 65

lack of udpgt

Question 66

type 2 Crigler-Najjar syndrome

Answer 66

few UDGPT

Question 67

syndrome for bilirubin that reached brain is called as

Answer 67

Crigler-Najjar syndrome

Question 68

Hepatocyte injury (hepatocellular) as seen in:

Answer 68

o Viral hepatitis o Cirrhosis and alcoholic hepatitis o Toxic liver injury o

Question 69

in Hepatocyte injury (hepatocellular) as, mataas ang

Answer 69

b1 and b2

Question 70

Impaired excretion of products from the hepatocytes as seen in:

Answer 70

o Dubin-Johnson syndrome o rotor syndrome o Viral hepatitis o Cirrhosis

Question 71

Failure of bile to flow due to obstruction of the biliary tree

Answer 71

Increase B2

Question 72

Post-hepatic hyperbilirubinemia causes

Answer 72

o Choledocholelithiasis (stone in the common bile duct) o Structures and spasm caused by bacteria o pancreatic sarcoma/ cholangiocarcinoma o Parasitism

Question 73

number 1 enzyme for the detection of the biliary tree

Answer 73

gamma-glutamyl transferas