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OBGYN > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

The normal cell has how many chromosomes?

A

46 chromosomes or 2 pairs of 23

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2
Q

A condition in which there are an abnormal number of whole chromosomes

A

Aneuploidy

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3
Q

having 69 chromosomes/ 3 sets

A

Triploidy

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4
Q

A situation where some cells have an abnormal number of chromosomes while other cells do not.

A

Mosaic

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5
Q

Cell has the normal pair of each chromosome—46 chromosomes

A

Diploid

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6
Q

Cell has only one of an individual chromosome

A

Haploid

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7
Q

The most common cause of abnormal serum screening test

A

Incorrect dating of the pregnancy

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8
Q

Analysis of fetal chromosomes

A

Fetal karyotyping

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9
Q

3 main procedures for fetal karyotyping

A
  • Chorionic Villi sampling(CVS)
  • amniocentesis
  • cordocentesis
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10
Q

Earliest procedure that can be performed during pregnancy for fetal karyotyping

A

CVS

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11
Q

CVS is performed between:

A

10-13 weeks

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12
Q

Amniocentesis is performed between:

A

15-20 weeks

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13
Q

Cordocentesis aka

A

Percutaneous umbilical cord sampling

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14
Q

Cordocentesis is performed:

A

After 17 weeks

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15
Q

Most common chromosomal abnormality

A

Trisomy 21

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16
Q
  • hypoplastic/absent nasal bone
  • duodenal atresia
  • increased NT and Nuchal fold
  • sandal gap
  • brachycephaly
  • clinodactyly
A

Trisomy 21

17
Q

Second most common chromosomal abnormality

A

Trisomy 18/ Edwards

18
Q
  • strawberry shaped skull
  • choroid plexus cyst
  • micrognathia
  • clenched fists
  • rocker bottom feet
  • diaphragmatic hernia
  • esophageal atresia
A

Trisomy 18/ Edwards

19
Q

What is this? Why abnormality is it associated with?

A

Strawberry shaped skull, trisomy 18/Edwards

20
Q

What abnormality is this? What is it associated with?

A

Rocker bottom foot. Trisomy 18

21
Q

Holoprosencephaly is common with what chromosomal abnormality

A

Trisomy 13/Patau

22
Q
  • facial anomalies
  • microcephaly
  • holoprosencephaly
  • hypoplastic left heart
  • polydactyly
A

Trisomy 13/ Patau

23
Q

What abnormality is this? What is it associated with?

A

Polydactyly. Trisomy 13/Patau

24
Q

A partial mole pregnancy is often found with what chromosomal abnormality?

A

Triploidy

25
Q

Turner syndrome aka

A

45X or monosomy X

26
Q
  • cystic hygroma
  • ascites, pleural effusion, subcutaneous edema
  • webbed neck
  • coarctation of aorta
A

Turner syndrome

27
Q

Most often the paternal sex chromosome is missing:

A

Turner syndrome

28
Q

Male chromosomal abnormality resulting in

  • hypogonadism
  • small testis
  • tall
  • long legs/arms
  • gynecomastia
A

Klinefelter syndrome

29
Q

Klinefelter syndrome aka

A

47 XXY

OBGYN (22 decks)

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