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CYTOGENETIC DISORDERS PART 1 Flashcards

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1
Q

Diseases with abnormal
chromosomal number or
alterations in structure of one or more chromosomes

A

Cytogenetic Disorder

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2
Q

Types of Cytogenetic Disorders

A
  1. Chromosome Aneuploidy Syndrome
  2. Autosome and Sex Chromosomes
  3. Structural Chromosome Anomalies
  4. Microdeletion Syndromes and Contiguous
  5. Gene Syndromes
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3
Q

Complete sets of chromosome with none extra or missing.

A

Euploidy

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4
Q

The normal human cells are diploid, having two sets of

A

23 chromosomes.

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5
Q

One or more individual
chromosomes are extra or missing from a euploid set.

A

Aneuploidy

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6
Q

Missing pair of Homologs, occurs at preimplantation stage and It is Lethal.

A

Nullisomy

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7
Q

One chromosome is missing, occurs at embryonic stage and Lethal.

A

Monosomy

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8
Q

Three copies of a particular
chromosome, occurs at embryonic or fetal stage and maybe lethal.

A

Trisomy

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9
Q

Differentiate between Triploidy and Trisomy.

A

Triploidy has three sets of
chromosomes while Trisomy two sets with one chromosome that has an extra copy.

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10
Q

Example of this is Down Syndrome

A

Trisomy

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11
Q

Example of this is Tuner’s Syndrome

A

Monosomy

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12
Q

The involved chromosomes are
autosomes.

A

Autosomal Aneuploidy

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13
Q

Trisomy 13

A

Patau Syndrome

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14
Q

Trisomy 18

A

Edward Syndrome

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15
Q

Trisomy 21

A

Down Syndrome

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16
Q

Among the three examples of Autosomal Aneuplodies, what trisomy/ syndrome having more cases? What is the ratio?

A

Trisomy 21 or Down Syndrome, since it has the ratio of 1:700.

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17
Q

The ratio of Trisomy 13 or Patau syndrome is

A

1:4,000 to 1:15,000

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18
Q

The ratio of Trisomy 18 or Edward Syndrome is

A

1:8,000 livebirths

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19
Q

Causes of Trisomy 21 and 13 is

A

Nondysjunction, Mosaic, and Translocation

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20
Q

Causes of Trisomy 18 or Edward Syndrome is

A

Nondysjunction and Mosaic

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21
Q

Most common causes in Trisomy 21 or Down Syndrome is

A

Nondysjunction

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22
Q

These three conditions in Autosomal Aneuploidies are associated with

A

Increased Maternal Age

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23
Q

Life expectancy of patient with Down Syndrome

A

Up to the 2nd/3rd decade
of life, usually.

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24
Q

Life expectancy of patient with Patau Syndrome & Edward Syndrome

A

Less compatible with life, that patients usually die within the first month of life.
(1st month of life)

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25
Most common of the chromosomal disorders and it is the major cause of Mental Retardation.
DOWN SYNDROME
26
SOME FEATURES OF AN INDIVIDUAL WITH DOWN SYNDROME
-Epicanthic Fold with Flat Facial Profil -Mental Retardation -Abundant Neck Skin -Simian Crease -Umbilical Hernia -Heart Defects (40%) -Leukemia
27
Simian Crease means
The line in the palm is straight from one side to the other side
28
Hypotonia means
Weak Muscles
29
Intestinal Stenosis
Obstruction through the flow of the chyme (Digestion)
30
Types of Leukemia in Down Syndrome
Acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML).
31
Those who survive beyond the age of 40 with Down syndrome can have this disease
Alzheimer’s disease
32
Ventricular septal defect (VSD) means that
Hole in the wall (septum)
33
FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME
-Prominent Occiput -Mental Retardation -Micrognathia -Low Set Ears -Short Neck -Overlapping Fingers -Congenital Heart Defects -Limited Hip Abduction -Renal Malformation -Rocker-bottom Feet
34
Renal Malformation also known as
Horseshoe Kidney
35
It has Transverse Cardiac Defect (ventricular septal defect, VSD)
Trisomy 13 or Patau Syndrome
36
FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME
-Microphthalmia -Polydactyly -Cleft Lip or Cleft Palate -Cardiac Defects -Umbilical Hermia -Renal Defects -Rocker-bottom Feet
37
Cyclopia means
One eye only
38
Polydactyly means
With one or more extra fingers
39
It has incidence or ratio of 1:500 Live Births
SEX CHROMOSOME ANEUPLOIDIES
40
True or False: In Sex Chromosome Aneuploidies, It is difficult to diagnose at birth and usually recognized at puberty.
True
41
The higher the number of X chromosomes in both male and females means A. Higher the possibility of mental retardation B. Lower the possibility of mental retardation
A. Higher the possibility of mental retardation
42
EXAMPLES OF SEX CHROMOSOME ANEUPLOIDIES
1. 47, XXX Females and 47,XYY Males 2. Klinefelter Syndrome 3. Tuner Syndrome 4. Psuedohermaphroditism 5. Hermaphroditism
43
The incidence is 1: 1000
47,XXX FEMALES AND 47,XYY MALES
44
Often go undetected throughout life
47,XXX FEMALES AND 47,XYY MALES
45
47,XXX FEMALES AND 47,XYY MALES: Clinical Features:
-Taller than average - learning difficulties -Fully fertile -chromosomally normal children
46
Have increased risk for behavioral problems and are anti-social with criminal tendencies which has been negated by subsequent findings.
47, XXY males
47
Klinefelter Syndrome: Male or Female?
Male
48
Majority of the cases in Klinefelter Syndrome are due to
Maternal nondysjunction
49
47,XXY = There is an extra “X”
Karyotype of Klinefelter
50
45, X
Tuner Syndrome
51
Tuner Syndrome occurs to Male or Female?
Female
52
Major causes of Tuner Syndrome
Paternal nondsyjunction
53
One of the most common causes of hypogonadism in male and Rarely diagnosed before puberty.
Klinefelter Syndrome
54
FEATURES OF AN INDIVIDUAL WITH KLINEFELTER SYNDROME
-Distinctive Body Habitus -Small Penis / Small Testicles -Absence of Secondary Male Sexual Characteristics -Gynecomastia -Lower IQ -Increased FSH & estradiol
55
Gynecomastia
These individuals in male will enlarge the breast that are expected for females.
56
Only viable live born monosomy.
Turner Syndrome
57
FEATURES OF AN INDIVIDUAL WITH TURNER SYNDROME
-Short Stature and Typically Obese - Gonadal dysgenesis and amenorrhea. -Absences of Secondary Female Sex Characteristics -Normal IQ but with Learning Difficulties -Bilateral Neck Webbing due to Cystic hygroma in Utero -Low Posterior Hairline -Heart and Renal Anomalies -Cubitus valgus and Shield Chest -Autoantibody to Thyroid
58
Determined by the presence or absence of Y chromosome
Genetic Sex
59
Depends on the histologic characteristics of the gonads.
Gonadal Sex
60
Depends on presence of derivatives of mullerian or wolffian ducts.
Ductal Sex
61
Depends on the appearance of external genitalia.
Phenotypic or Genital Sex
62
Primary trigger for male external genitalia development
PSEUDOHERMAPHRODITISM
63
Disagreement between gonadal (XX) and phenotypic (male) sex
FEMALE PSEUDOHERMAPHRODITISM (XX MALE)
64
Congenital adrenal hyperplasia (CAH)
Autosomal Recessive disorder
65
Genetically males because they are “XY” but they appear to be based on the external genitalia, females.
MALE PSEUDOHERMAPHRODITISM (XY FEMALE)
66
Most complex of all disorder of sexual differentiation
MALE PSEUDOHERMAPHRODITISM (XY FEMALE)
67
Exceedingly complex (sexual ambiguity)
HERMAPHRODITISM
68
If the ovarian tissues and testicular tissues are present in the gonad.
Ovatestes
69
Implies the presence of both ovarian (female gonad) and testicular tissues (male gonadal tissue)
True hermaphrodite

CYTOGEN (11 decks)

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