Trisomies and syndromes

Question 1

What syndrome is associated with trisomy 13?

Answer 1

Patau Syndrome

Question 2

What syndrome is associated with trisomy 18?

Answer 2

Edward’s Syndrome

Question 3

What syndrome is associated with trisomy 21?

Answer 3

Down Syndrome

Question 4

What is triploidy?

Answer 4

The presence of an additional set of chromosomes in the cell for a total of 69 chromosomes rather than the normal 46 chromosomes per cell

Question 5

A condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing.

Answer 5

Turner syndrome

Question 6

Which syndrome is associated where boys and men are born with an extra X chromosome?

Answer 6

Klinefelter syndrome

Question 7

Women in their late __s and ____s have a higher chance of trisomy conditions occurring

Answer 7

30s and 40s

Question 8

What percentage of people with Down syndrome will experience some delay in their development and some level of learning disability?

Answer 8

100%

Question 9

Three copies of chromosome 21 instead of two is which syndome?

Answer 9

Down syndrome

Question 10

Which trisomy is associated with the father’s sperm or the mother’s egg cell contains the extra chromosome?

Answer 10

Trisomy 21
Down syndrome

Question 11

What is it called when an extra chromosome spontaneously appears as the embryo develops?

Answer 11

Mosaic down syndrome

Question 12

Physical characteristics of down syndrome may include:

Answer 12

1. slight upward slant of the eyes
2. small fold of skin on the inside of the eye (epicanthic fold)
3. small white patches on the edge of the iris of the eye (Brushfield spots)
4. rounded face or flat profile
5. usually smaller and weigh less at birth than others

Question 13

What syndrome is three copies of chromosome 18 instead of two?

Answer 13

Edward’s syndrome

Question 14

Characteristics of Edwards syndrome includes:

Answer 14

1. physical irregularity of the kidneys, ureters, heart, lungs and diaphragm
2. cleft lip or cleft palate
3. small skull (microcephaly)
4. malformations of the hands and feet – including missing thumbs, club feet and webbing between the fingers and toes (syndactyly)
5. neural tube defect, where the spinal cord, meninges and blood vessels protrude through a gap in the vertebrae (myelomeningocele)
6. malformations of the sex organs

Question 15

Survival rate for Edwards syndrome is _____.

Answer 15

Poor

Question 16

What syndrome is associated with three copies of chromosome 13 instead of two?

Answer 16

Patau Syndrome

Question 17

Characteristics of Patau syndrome includes:

Answer 17

1. small skull (microcephaly)
2. an abnormal opening in the skull
3. malformations of part of the brain
4. structural defects of the eyes
5. cleft lip or cleft palate
6. additional toes or fingers (polydactyly)
7. congenital heart disorders, such as ventricular septal defect
8. neural tube defect, where the spinal cord, meninges and blood vessels protrude through a gap in the vertebrae (myelomeningocele)
9. malformations of the sex organs

Question 18

Survival rate for Patau syndrome is _____.

Answer 18

Poor

Question 19

Signs of trisomy during pregnancy includes:

Answer 19

too much amniotic fluid surrounding the baby (polyhydramnios)
only one umbilical cord artery
a smaller than expected placenta
the baby is small for its gestational date
the baby is less active than expected
congenital defects, including cleft palate or heart irregularities, are picked up during ultrasound scans

Question 20

Prenatal tests that can help detect trisomy disorders include:

Answer 20

ultrasound scans – sound waves are used to create a picture
maternal serum screening – a specialised blood test
amniocentesis – a sample of the amniotic fluid is taken and examined
chorionic villus sampling – a sample of cells from the chorion, the tissue that will ultimately become the placenta, is taken and examined
non-invasive prenatal testing (NIPT) – a screening test that measures fetal DNA circulating in the mother’s blood.

Question 21

XXX

Answer 21

Trisomy X

Question 22

XXY

Answer 22

Klinefelter syndrome