(F) Cytogenetic Disorders (transes-based) Flashcards by ASHLEY JARED DEFENSOR

an abnormal chromosomal number or
alterations in structure of one or more
chromosomes results to?

disease

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Definition of terms

Complete sets of chromosome with none
extra or missing

Euploidy

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TOF. The normal human cells are haploid,
having two sets of 23 chromosomes

F (diploid)

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one or more individual chromosomes are extra or missing from a euploid set

aneuploidy

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Aneuploidy

Pair 6 chromosomes is an example of?

Nullisomy

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Aneuploidy

Missing pair of homologs

Nullisomy

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Aneuploidy

This occurs at preimplantation and can be lethal.

Nullisomy

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Aneuploidy

One chromosome is missing

Monosomy

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Aneuploidy

Occurs at embryonic stage and may be lethal.

Monosomy

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TOF. Turner’s syndrome is an example of trisomy.

F (monosomy)

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TOF. Triploidy has 3 set of chromosomes while trisomy only has two sets with one chromosome that has an extra copy.

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Aneuploidy

Three copies of a particular
chromosome in an otherwise diploid cel

Trisomy

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Aneuploidy

TOF. 47, XX or X,Y +21 is an example of triploidy.

F (trisomy)

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TOF. Trisomy, similarly to monosomy, occurs at embryonic stage and may be lethal.

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Trisomy 21 AKA

Down Syndrome

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TOF. The incidence of livebirths with people with down syndrome are 1:7000 live births

F (1:700)

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causes of down syndrome?

nondysjunction, translocation and mosaics

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TOF. Trisomy 21 and Trisomy 13 have the same causes.

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TOF. Trisomy 13 and Trisomy 18 have the same causes.

F (walang translocation sa trisomy 18)

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TOF. in trisomy 21, mosaicism is the most common cause.

F [nondisjunction 92.5-95% while Mosaicism (< 3%)]

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TOF. The translocation as a cause of down syndrome is only 5%.

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Specific Autosomal Aneu.

47,XX or XY + 21

Trisomy 21: Nondisjunction

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Specific Autosomal Aneu.

46,XX or XY , der(14,21) (q10;q10) + 21

Trisomy 21: Translocation

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Specific Autosomal Aneu.

○ 47,XX + 21/46,XX
○ 47,XY + 21/46,XY

Trisomy 21: Mosaicism

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Life expectancy of Nondisjunction: Down Syndrome

2nd and 3rd decade of life

# Trisomy 21 Life expectancy of Translocation

2nd and 3rd decade of life

# Trisomy 21 Life expectancy of Mosaicism

n/a

# Trisomy 18 aka?

EDWARD SYNDROME

# TRISOMY 13 TOF. 1 in 4,000 to 15,000 live births

# Specific Autosomal Aneu. 47,XX or XY +13

Trisomy 13: Nondis

# Specific Autosomal Aneu. 46,XX or XY , der(13,14) (q10;q10) + 13

Trisomy 13: Trans

# Specific Autosomal Aneu. ○ 46,XX/47,XX + 13 ○ 46,XY/47,XY + 13

Trisomy 13: Mosa

Life expectancy of trisomy 18 and 13 if the cause is translocation? A. <1 month B. < 1 week C. AOTA D. NOTA

D ## Footnote walang trans sa trisomy 18

Life expectancy of trisomy 18 and 13 if the cause is nondisjunction? A. <1 month B. < 1 week C. AOTA D. NOTA

C (A & B kasi within 1st month)

# Trisomy 18 Live births of Trisomy 18 A. 1 in 4000 B. 1 in 8000 C. 1 in 1500 D. 2 in 8000

# Trisomy 18 Mosaicism A. 46,XX/47,XX +18 B. 46,XX/47,XX + 13 C. AOTA D. NOTA

A ## Footnote ○ 46,XX/47,XX +18 ○ 46,XY/47,XY +18

# Trisomy 18 Identify Cause: 47,XX or XY +18

Nondisjunction

Risk association of autosomal aneuploidies

Increased maternal age

TOF. A child with translocation indicates translocation in one of the parents thus karyotyping of mother is needed, to know if there is an increased probability of having another child with Down syndrome due to the risk of maternal age.

F (both parents is needed)

At what age is considered to have a high-risk pregnancy?

Identify disease

Trisomy 21: down syndrome

a bands of 21 q22.12-21q22.3 is a common indicator for?

down syndrome

Most common of the chromosomal disorders

Trisomy 21

FEATURES OF AN INDIVIDUAL WITH DOWN SYNDROME, except: A. Abundant Neck Skin B. Low Set Ears C. Simian Crease D. Umbilical Hernia E. Hypotonia

B (should be small ears, low ears is for trisomy 18)

# Trisomy 21 Which is not true A. Protruding Tongue B. Decreased functional activity of the gonads C. Heart defects occur 50% D. Obstruction through the flow of the chyme

C(40%)

Idenitfy disorder

Trisomy 21

# Trisomy 21 What leukemia can I get

ALL, AML

# Trisomy 18 FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME, except: A. Microphthalmia B. Smaller Mandible C. Congenital Heart Defects D. Renal Malformation E. NOTA

A (for trisomy 13 'yan)

FEATURES OF AN INDIVIDUAL WITH EDWARDS SYNDROME, except: A. Overlapping Fingers B. Prominent Parietal C. Limited Hip Abduction D. Renal Malformation E. NOTA

B (occiput)

# Trisomy 13 or 18 Rocker-bottom Feet

both

Identify disorder

Trisomy 18

Identify disorder

Trisomy 13

# identify disorder Medtech k da't alam mo

Trisomy 18

# trisomy 13 FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME, except: A. Renal Defects B. Cleft Palate C. Cardiac Defects D. Microphthalmia E. Overlapping Fingers

E (for 18 'yan)

FEATURES OF AN INDIVIDUAL WITH PATAU SYNDROME, except: A. Umbilical Hermia B. Polydactyly C. Rocker-bottom Feet D. Punched out Scalp E. NOTA

TOF. Sex chromosome aneuploidies have a lower incidence rate of live births compared to autosomal aneuploidies.

F (higher sa sex, 1:500 Live Births)

# SEX CHROMOSOME ANEUPLOIDIES TOF. Phenotypically milder than autosomal aneuploidies.

# SEX CHROMOSOME ANEUPLOIDIES TOF. Subtle, chronic problems associated with sexual development and fertility.

# SEX CHROMOSOME ANEUPLOIDIES tor f Easy to diagnose at birth and usually recognized at puberty

F (difficult kasi wala pa secondary sexual characteristics)

# SEX CHROMOSOME ANEUPLOIDIES t or f higher the number of X chromosomes in both male and females, the higher the possibility of mental retardation

T (XX retarded)

# 47,XXX FEMALES AND 47,XYY MALES Incidence

1:1000

# 47,XXX FEMALES AND 47,XYY MALES features except: A. Taller than average B. Abnormal offsprings C. Learning difficulties D. Behavioral problems

B (fully fertile and have chromosomally normal children)

TOF. 46, XY Male are anti-social with criminal tendencies which has been negated by subsequent findings

F (47, XXY + males have increased rick for behavioral probelsm)

TOF. Klinefelter syndrome are prevalent in male due to paternal nondysjunction.

F (maternal, females give off the extra X)

TOF. Half of the total cases of Turners Syndrome are secondary to nondysjunction - paternal nondysjunction

TOF. The other causes for TURNERS SYNDROME are isochromosome formation, deletion, ring formation, and mosaic while KLINEFELTER are mosaic.

One of the most frequent form of sex chromosomal disorders.

Klinefelter syndrome

# KLINEFELTER SYNDROME TOF. Incidence: 1:500 live female births

F (male)

# KLINEFELTER SYNDROME common effect

hypogonadism

# KLINEFELTER SYNDROME Difficult to diagnose before puberty due to?

lack of development of secondary male sexual characteristics

# KLINEFELTER SYNDROME TOF. They experience infertility due to small atrophic testicles with hyalinized somniferous tubules and azoospermia.

# KLINEFELTER SYNDROME Features, except: A. Small Penis B. Enlarged breast (Gynecomastia) C. Distinctive Body Habitus D. Decreased FSH & estradiol E. NOTA

D (increased, it's for females kaya they're showing phenotypic female qualities) | 47,XXY ## Footnote + lower IQ + absence of secondary male characteristics

# Sex Chromosomal Aneuploidy Only viable live born monosomy.

Turner Syndrome

Most common sex chromosomal anomaly in females.

TURNER SYNDROME

# TURNER SYNDROME TOF. 99% of 45,X conceptuses are non-viable, many believe that there are no truly non-mosaic Tuner syndrome.

# TURNER SYNDROME TOF. The critical region of the short arm just proximal to the centromere, PRESENCE, creates this syndrome.

F (Absence)

# TURNER SYNDROME Features, except: A. Long stature B. Amenorrhea C. Gonadal dysgenesis D. Normal IQ E. NOTA

A (Short Stature and Typically Obese)

# TURNER SYNDROME Features except: A. Bilateral Neck Webbing B. Autoantibody to Thyroid (50%) and Glucose Intolerance C. Heart and Renal Anomalies D. Cubitus valgus and Shield Chest E. NOTA

NOTA ## Footnote + low hairline

# PSEUDOHERMAPHRODITISM Determined by the presence or absence of Y chromosome

genetic sex

# PSEUDOHERMAPHRODITISM Depends on the histologic characteristics of the gonads

Gonadal Sex

# PSEUDOHERMAPHRODITISM definition Testicles = Male Ovary = Female

Gonadal sex

# PSEUDOHERMAPHRODITISM Depends on presence of derivatives of mullerian or wolffian ducts.

Ductal Sex | Fallopian Tubes, Uterus, Cervix, Upper part of the Vagina = Female

# PSEUDOHERMAPHRODITISM Depends on the appearance of external genitalia. ## Footnote o Penis, Scrotum = Male o Clitoris, Vaginal Vault, Labia Tissues; Labia Minora, Labia Majora = Female

Phenotypic or Genital Sex

Primary trigger for male external genitalia development is a gene located on the SHORT ARM OF THE Y CHROMOSOME sex-determining region, SRY

PSEUDOHERMAPHRODITISM

# PSEUDOHERMAPHRODITISM this initiates the male developmental pathway, a protein produced by the

TDF

Ambiguous genitalia or genotype/phenotype mismatch results because of mutations in the genes within this pathway

Pseudohermaphroditism

# Pseudohermaphroditism Disagreement between gonadal (XX) and phenotypic (male) sex.

FEMALE PSEUDOHERMAPHRODITISM (XX MALE)

# FEMALE PSEUDOHERMAPHRODITISM (XX MALE) gonad: phenotype:

gonad: female phenotype: male

# FEMALE PSEUDOHERMAPHRODITISM (XX MALE) Congenital adrenal hyperplasia (CAH, AR) causes the increased androgen production → which can cross the placenta → female fetus develops ambiguous genitalia due to deficiency of enzyme? A. 21-hydroxylase B. 11-deoxy cortisone C. AOTA

# FEMALE PSEUDOHERMAPHRODITISM (XX MALE) What do you call when there's a transfer of unique Y loci, together with the SRY (short arm), to the tip of the X chromosome.

translocation ## Footnote Amount of chromosome material involved is small and can not be detected cytogenically

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

# MALE PSEUDOHERMAPHRODITISM Most complex of all disorder of sexual differentiation due to?

Androgen insensitivity / Testicular feminization.

# MALE PSEUDOHERMAPHRODITISM (XY FEMALE) Causes of this syndrome except: A. Androgen receptor gene mutation B. Translocation C. TDF/SRY is absent in chromsome Y D. NOTA

# MALE PSEUDOHERMAPHRODITISM (XY FEMALE) Clinical features, except: A. blind vagina B. testes in the inguinal C. infertility D. functional internal genitalia for Female E. NOTA

# Sex chromosomal aneuploidy Exceedingly complex (sexual ambiguity)

HERMAPHRODITISM

implies the presence of both ovarian (female gonad) and testicular tissues (male gonadal tissue) (One on each side or ovoteste

True hermaphrodite/ism

# Hermaphroditism All true, except: A. Extremely rare B. Mosaics mostly C. half of them are genetically female D. mostly, they are genetically male, “46,XY”

D (rare for men)

# Sex chromosomal aneuploidy identify