cytogenetics

47

if a patient has a trisomy disorder, how many chromosomes do they have?

trisomy

+ one extra chromosome:

45

if a patient has a monosomy disorder, how many chromosomes do they have?

monosomy

- one chromosome:

46

how many chromosomes should a patient have?

mosaic

non-disjunction in mitosis will also cause chromosomal # changes, often resulting in:

mitosis

mosaics are often caused by non-disjunction that occurs in:

trisomy

if non-disjunction occurs in meiosis I and the disomic gametes are fertilized, what type of chromosomes would you have?

monosomy

if non-disjunction occurs in meiosis I and the nullisomic gametes are fertilized, what type of chromosomes would you have?

Down Syndrome

what syndrome is represented: 47,XX/XY,+21

Turner Syndrome

what syndrome is represented: 45, X

Down Syndrome

delayed eruption is a feature that patients with what syndrome present?

Turner Syndrome

early eruption is a feature that patients with what syndrome present?

Down Syndrome

small and missing teeth is a feature that patients with what syndrome present?

Down Syndrome

increase susceptibility to cavities is a feature that patients with what syndrome present?

Turner Syndrome

Thin enamel is a feature that patients with what syndrome present?

Turner Syndrome

Redisposition to idiopathic root reabsorption is a feature that patients with what syndrome present?

Turner Syndrome

low caries index a feature that patients with what syndrome present?

mosaic

when a person has two or more genetically different sets of cells in his or her body

sex chromosome

what type of chromosomes are affected in Turner Syndrome?

autosomal chromosomes

what type of chromosomes are affected in Down Syndrome?

barr body

Inactivated chromosome is called:

none

how many barr bodies can be seen ina somatic cell of a patient with keryotype 45,X?

q

the long arm of a chromosome is represented by the letter:

p

the short arm of a chromosome is represented by the letter:

structural deletion

5p- Cri-DU-CHAT syndrome is what type of chromosomal change?

structural deletion

DiGeorge syndrome is what type of chromosomal change?

numerical gain

Down syndrome is what type of chromosomal change?

numerical loss

Turner syndrome is what type of chromosomal change?

structural translocation

Philadelphia chromosome is what type of chromosomal change?

Cri-DU-CHAT syndrome

5p deletion:

chromosome 5 short arm

a patient with Cri-DU-CHAT has a deletion at:

chomosome 21

a patient with Down syndrome has a addition at:

chromosome 22 long arm

a patient with DiGeorge syndrome has a deletion at:

DiGeorge syndrome

22q11.2 deletion

Philadelphia chromosome

Translocation between chromosomes 9 and 22 will cause:

Philadelphia chromosome

A highly sensitive test for chronic myeloid leukemia may be indicative of what chromosomal disorder?

Robertsonian translocations

example: 45,XX,der(14,21) is what type of chromosomal change?

Robertsonian translocations

•The break is in the centromere.
Fusion of the q arms of two acrocentric chromosomes (13/14/15/21/22).
p arms are lost.
Chromosome count is decreased to 45

p arms

what part of the normal chromosome is lost in Robertsonian translocations?

13, 14, 15, 21, 22

list the 5 chromosomes that are involved in Robertsonian translocations:

Down Syndrome

based on the karyotype, identify the genetic disorder:

Turner Syndrome

based on the karyotype, identify the genetic disorder:

Philadelphia chromosome

based on the karyotype, identify the genetic disorder:

Robertsonian translocations

based on the karyotype, identify the genetic disorder: