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P1EXAM > Genetics > Flashcards

Genetics Flashcards

1
Q

25 year old with primary amenorrhoea, normal secondary sex characteristics, uterine & cervical aplasia. What is the genetic picture?

Primary amenorrhea with absent uterus, vagina ends in a blind pouch, normal breasts and scant pubic hair is seen with bilateral hernia

A

Mayer Rokitanski Kusher Hauser Syndrome
(booklet says this)

bilateral hernia = Androgen insensitivity syndrome

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2
Q

At what number of weeks can CVS and amniocentesis be done?

A

CVS - from 11/40
Amniocentesis - from 15/40

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3
Q

What is the inheritance of Achondroplasia

A

Autosomal dominant

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4
Q

Diagnostic test for cystic fibrosis in blood

A

Chromosomal analysis

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5
Q

Which test increases the number of copies of DNA?

A

PCR

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6
Q

Quadruple test postive means

A

AFP decreased
Unconjugated E3 decreased
Bhcg increased
Inhibin A increased

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7
Q

What hormone is deficient in congenital adrenal hyperplasia?

A

21 hydroxylase deficiency
Cortisol and androgen deficiency

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8
Q

What are the findings on Down’s syndrome screening

A

AFP decreased
Unconjugated E3 decreased
Bhcg increased
Inhibin A increased

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9
Q

Complete mole karyotype

A

46XX

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10
Q

Mother and father homozygous for sickle cell: effect on children

A

Sickle cell

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11
Q

Duchenne muscular dystrophy mode of inheritance

A

X linked recessive

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12
Q

Sickle cell disease mode of inheritance

A

Autosomal recessive homozygous

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13
Q

Trisomy 18 condition name

A

Edwards

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14
Q

Partial mole genome

A

69 xxy

Triploidy
46 of paternal origin
23 of maternal origin

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15
Q

Confined placental mosaicism

A

Abnormalities in the placental but not foetal tissues

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16
Q

Mode of inheritance of Hungtons chorea

A

Autosomal dominant

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17
Q

Mode of inheritance of Von willebrand

A

autosomal recessive

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18
Q

mitochondrial chromosomes - inheritance

A

Inherited maternally only

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19
Q

What is the 2nd common enzymatic deficiency after 21-OH CAH ?

A

11 beta-hydoxylase deficiency

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20
Q

karyotype graph (47, XXY). What is the diagnosis ?

A

Klinefelters

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21
Q

How many genes encoded in mitochondrial DNA?

A

37 genes

22
Q

Father has cystic fibrosis (rr), and the mother is normal (RR). What is the probability of having an affected child?

A

0%

23
Q

What is the name of a chromosome rearrangement that involves the transfer of genetic material between two non-homologous chromosomes?

A

Translocation
(reciprocal or robertsonian?)

24
Q

What is the difference between Robertsonian translocation and Reciprocal translocation?

A

Translocations:
Reciprocal - exchange segments of chromosome
Robertsonian - entire chromosome attaches to another at the centromere

25
Q

Does balanced translocation impact the genetic material quantity?

A

No loss of genetic material

26
Q

Does UN-blanaced translocation impact the genetic material quantity?

A

Increase of genetic material

27
Q

USS image ‘bunch of grapes’
What is the diagnosis and karyotype?

A

Complete mole
46 XX

(NOT 46 XY)

28
Q

Trisomy 13

A

Patau

29
Q

Pedigree diagram:
Carrier mother
Unaffected father
Affected son
Mode of inheritance?

A

X linked recessive

30
Q

A woman is a carrier of CF and her partner is Caucasian with a rate of 1/25. What is the risk of the child having cystic fibrosis?

A

1%

(1 in 4) x (1 in 25)

4x25 = 100
1 in 100 = 1%
?????

31
Q

Infertility case, Male 190 cm wt 60 kg, testicular volume 5 ml. What is the possible karyotype?

A

47XXY

32
Q

Rate of miscarriage in couples with balanced translocation?

A

2-5%?

33
Q

Case of a male with azoospermia and loss of smell (anosmia) diagnosis?

A

Kallman’s Syndrome
(hypogonadotrophic hypogonadism)

34
Q

Edwards syndrome in a male patient
46 or 47
XX or XY

A

47XY

Trisomy 18

35
Q

Interpretation of downs screening results
Age related risk; 1:1000MoM
AFP; 1.05MoM
β-hCG; 0.85
Test risk; 1:10000

A

Low risk for downs

36
Q

A woman is 8 weeks pregnant attends for genetic counseling as she worried about CF, her sister has a child with cystic fibrosis. She is a carrier and her partner is normal What is the risk of the child having cystic fibrosis?

A

0%

Autosomal recessive
Rr
+
RR
= no chance of rr

37
Q

Mother has sickle cell disease married to sickle cell trait husband chance of baby to having disease?

A

50%

Autosomal recessive
rr
+
Rr
= Rr/Rr/rr/rr

38
Q

Which chromosomes are capable of robertsonian translocations?

A

13, 14, 15, 21, 22

39
Q

Woman has a stillbirth (trisomy 13). Finds out she has a balanced translocation 13/14. What is the chance of having live baby with unbalanced translocation?

A

50%

1/4 - normal
1/4 - balanced
2/4 - unbalanced

40
Q

Primary amenorrhea, short stature, webbed neck

A

Turners

41
Q

Azoospermia, height 1.9m, small testes

A

Klinefelters

42
Q

Karyotype 46 XX, absent uterus

A

Rokitansky

43
Q

What is the mode of inheritance of BRCA1/2

A

Autosomal dominant

44
Q

What is the pattern of hormones in Klinefelter’s ?
Testosterone
SHBG
FSH/LH

A

Testosterone low
SHBG high
FSH/LH high

45
Q

Which two trisomies can be caused by robertsonian translocation?

A

Downs (21) and patau (13)

46
Q

Most common mutation in Lynch snydrome

A

MLH1 ?
Think ‘L’ for Lynch

(less so MSH2)

47
Q

What is the risk of [‘accidental’] abortion associated with amniocentesis?

A

1%

48
Q

Which arm of the Y chromosome has the sex determining gene on it?

A

The short arm of the Y chromosome

49
Q

What is the karyotype of Edwards?

A

47XX +18
47XY +18

50
Q

What DNA band is stained during karyotyping

A

G banding

51
Q

Bilateral renal agenesis –>
Oligohydramnios –>
Compression: limb hypoplasia, low ears

A

Potter’s syndrome

52
Q

What ~DNA issue causes Lynch syndrome

A

mutation of genes involved in DNA mismatch repair

P1EXAM (27 decks)

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