Developmental Disabilities
Handout 2
I.
Describe the 2 types of mental retardation that are determined at the time of conception:
Chromosomal abnormalities & Gene determined disorders
A. Humans are made up of ___________
1. ________________________
2. Chromatin  ______________________________
a. __________________ like structure
b. Composed of
1)
_______________________
2) Deoxyribonucleic acid (_____________)
3) ______________________
c.
B.
Somatic cells /
Sex Cells /
_____ pairs
Only have ________
Diploid cells contain _________ sets of
_______ representative
chromosomes
Total______________
-
______________
-
______________
Divide by
II.
Divide by
Differentiate between meiosis & mitosis and describe the stages of meiosis and mitosis
A.
Mitosis
Meiosis
__________ cell division
_______________ division
Divides ______ time
Divides __________ time
Results
Results
B. Mitosis
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1. (Interphase: ________________________)
a. ________________________ double
2. __________ phase
a. _______________________ double
3. ___________________ phase
a. ______________________ dissolves
b. ______________________ centrioles
c. Micro - _________________________ attach
4. ____________ phase
a. Chromosomes _________________________
5. ______________ phase
a. Chromosomes _________________________
6. ______________ phase
a. Cell ______________________ begins
7. Cytokinesis
a. _________ daughter cells
b. _____________________
C. Meiosis
1. One diploid cell  ___________ haploid cells
2. Genetic _____________________________
a. Independent _______________________________
b. ______________________- over
3. Interphase
a. Chromosomes ___________________________
4. _____________ phase 1
a. Chromosome ______________ up with their ____________________ pair
b. ________________ together (synapsis)  ________________
c. *____________________-over can occur
5. ____________ phase 1
6. ____________ phase 1
7. ____________ phase 1
a. __________ 1st meiotic cell division
b. __________
8. ___________ phase 2
a. ___________________ & _____________ towards equator
9. ___________ phase 2
a. ___________________
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10.
_________ phase 2
a. _________________________ separate
b. Move toward opposite _________________________
11.
_____________ phase 2
12.
Cytokinesis
D. Meiosis – error
1. Most common:
a. __________ pair
b. ______________ zygote  ___________ syndrome
III.
Explain how the presence or absence of a Y chromosome determines the sex of an individual.
A. _________ autosomes
B. _________ sex chromosomes
C. _________ = female
D. ________ = Male
E. What is a chromosome
1. Located in cell __________________________
2. Composed of ____________ coiled around _________________ called
_____________
3. Constriction point = _____________________________
F. How many Chromosomes do people have?
1. ____________ pairs
2. Total _____________
3. __________ autosomes
a. __________ (# _____)
G. Female: _______________
H. Male: ________________
I.
Chromosome abnormalities
1. Numerical Abnormalities
a. ______________ chromosome  ______________________
b. _________ chromosomes of a pair  ____________________
2. Structural abnormalities
a. Deletion: ______________________________________________________
b. Duplication: ____________________________________________________
c. Translocation: __________________________________________________
d. Inversion: _____________________________________________________
IV.
Explain how the presence or absence of a Y chromosome determines the sex of an individual.
A. Haploid / _________________ cells, due to reduction have ______ chromosomes
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V.
Explain the relationship between the following nitrogenous bases in forming an individuals
genetic code: Adenine; Thymine; Guanine; Cytosine
VI.
Define and explain the relationship between DNA & RNA
A. DNA: _______________________________________
1. Carrier _______________________________
2. ______ nitrogenous bases
B. RNA: ____________________ the code: ________________________
C. ___________  _______________ (moves out of __________________ into
______________ ) + __________________ (factory)  ____________________ (___) 
___________________________  _________________ cells  ________________ 
_________________________  ________________________ organism
VII.
Describe the role & function of: Operator genes; Structural genes; Regulator genes
A. Gene – functional unit of _______________________
1. Composed of____________________
B. Structural gene: Determines the ______________________________
C. Operator gene: _____________________________________________________________
D. Regulator gene: _____________________________________________________________
E. What kind of gene mutations are possible
1. Altered DNA ________________________________________
VIII.
Identify the trait carry elements of heredity
IX.
Differentiate between autosomal dominant inheritance and autosomal recessive inheritance
A. Gregor _____________________
1. ________________________
2. Experimented with ________________________
3. Identifies ______________ basic patterns of inheritance
B. Punnett Squares
1.
2.
3.
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4.
C. Autosomal Recessive inheritance
1.
2.
3. Examples: ____________________________________
D. Autosomal Dominant Inheritance
1.
2.
3. Examples: ____________________________________
E. X-links Recessive inheritance
1.
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2.
3. Examples: ____________________________________
F. X-Links Dominant inheritance
1.
2.
3. Examples: ____________________________________
X.
Define and explain what is included in karyotype
XI.
Identify the various morphological features commonly seen in the D.D. client:
A. Head & face
1. ________________________
2. Unusual ____________________ whorls
3. Ear:
a. Microtia_______________________________
b. ___________ set ear
4. Jaw
a. Micrognathia: ______________________________
B. Eye
1. __________________________
2. __________________________ eye movement
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C.
Extremities
1. ___________________________ palmar crease
2. ____________________ of the feet
3. _____________________________
4. ____________________ gap deformity
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