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CYTOGENETIC DISORDERS PART 1 Flashcards

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
Q

Most common of the chromosomal disorders and it is the major cause of Mental Retardation.

A

DOWN SYNDROME

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26
Q

SOME FEATURES OF AN INDIVIDUAL WITH DOWN SYNDROME

A

-Epicanthic Fold with Flat Facial Profil
-Mental Retardation
-Abundant Neck Skin
-Simian Crease
-Umbilical Hernia
-Heart Defects (40%)
-Leukemia

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27
Q

Simian Crease means

A

The line in the palm is straight from one side to the other side

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28
Q

Hypotonia means

A

Weak Muscles

29
Q

Intestinal Stenosis

A

Obstruction through the
flow of the chyme (Digestion)

30
Q

Types of Leukemia in Down Syndrome

A

Acute lymphoblastic leukemia (ALL) and acute myelogenous leukemia (AML).

31
Q

Those who survive beyond the age of 40 with Down syndrome can have this disease

A

Alzheimer’s disease

32
Q

Ventricular septal defect (VSD) means that

A

Hole in the wall (septum)

33
Q

FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME

A

-Prominent Occiput
-Mental Retardation
-Micrognathia
-Low Set Ears
-Short Neck
-Overlapping Fingers
-Congenital Heart Defects
-Limited Hip Abduction
-Renal Malformation
-Rocker-bottom Feet

34
Q

Renal Malformation also known as

A

Horseshoe Kidney

35
Q

It has Transverse Cardiac Defect (ventricular septal defect, VSD)

A

Trisomy 13 or Patau Syndrome

36
Q

FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME

A

-Microphthalmia
-Polydactyly
-Cleft Lip or Cleft Palate
-Cardiac Defects
-Umbilical Hermia
-Renal Defects
-Rocker-bottom Feet

37
Q

Cyclopia means

A

One eye only

38
Q

Polydactyly means

A

With one or more extra fingers

39
Q

It has incidence or ratio of 1:500 Live Births

A

SEX CHROMOSOME ANEUPLOIDIES

40
Q

True or False: In Sex Chromosome Aneuploidies, It is difficult to diagnose at birth and usually recognized at puberty.

41
Q

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

A. Higher the possibility of mental
retardation

42
Q

EXAMPLES OF SEX CHROMOSOME ANEUPLOIDIES

A
  1. 47, XXX Females and 47,XYY Males
  2. Klinefelter Syndrome
  3. Tuner Syndrome
  4. Psuedohermaphroditism
  5. Hermaphroditism
43
Q

The incidence is 1: 1000

A

47,XXX FEMALES AND 47,XYY MALES

44
Q

Often go undetected throughout life

A

47,XXX FEMALES AND 47,XYY MALES

45
Q

47,XXX FEMALES AND 47,XYY MALES:
Clinical Features:

A

-Taller than average
- learning difficulties
-Fully fertile
-chromosomally normal
children

46
Q

Have increased risk for behavioral
problems and are anti-social with criminal tendencies which has been negated by subsequent findings.

A

47, XXY males

47
Q

Klinefelter Syndrome:

Male or Female?

48
Q

Majority of the cases in Klinefelter Syndrome are due to

A

Maternal nondysjunction

49
Q

47,XXY = There is an extra
“X”

A

Karyotype of Klinefelter

50
Q

45, X

A

Tuner Syndrome

51
Q

Tuner Syndrome occurs to

Male or Female?

52
Q

Major causes of Tuner Syndrome

A

Paternal nondsyjunction

53
Q

One of the most common causes of hypogonadism in male and Rarely diagnosed before puberty.

A

Klinefelter Syndrome

54
Q

FEATURES OF AN INDIVIDUAL WITH KLINEFELTER SYNDROME

A

-Distinctive Body Habitus
-Small Penis / Small Testicles
-Absence of Secondary Male Sexual Characteristics
-Gynecomastia
-Lower IQ
-Increased FSH & estradiol

55
Q

Gynecomastia

A

These individuals in male will
enlarge the breast that are expected for females.

56
Q

Only viable live born monosomy.

A

Turner Syndrome

57
Q

FEATURES OF AN INDIVIDUAL WITH TURNER SYNDROME

A

-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
Q

Determined by the presence or absence of Y chromosome

A

Genetic Sex

59
Q

Depends on the histologic characteristics of the gonads.

A

Gonadal Sex

60
Q

Depends on presence of derivatives of mullerian or wolffian ducts.

A

Ductal Sex

61
Q

Depends on the appearance of external genitalia.

A

Phenotypic or Genital Sex

62
Q

Primary trigger for male external genitalia development

A

PSEUDOHERMAPHRODITISM

63
Q

Disagreement between gonadal (XX) and phenotypic (male) sex

A

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

64
Q

Congenital adrenal hyperplasia (CAH)

A

Autosomal Recessive disorder

65
Q

Genetically males because they are “XY” but they appear to be based on the external genitalia,
females.

A

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

66
Q

Most complex of all disorder of sexual differentiation

A

MALE PSEUDOHERMAPHRODITISM (XY FEMALE)

67
Q

Exceedingly complex (sexual ambiguity)

A

HERMAPHRODITISM

68
Q

If the ovarian tissues and
testicular tissues are present in the gonad.

69
Q

Implies the presence of both
ovarian (female gonad) and testicular tissues (male
gonadal tissue)

A

True hermaphrodite

CYTOGEN (11 decks)

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